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Latest research papers about Duane Syndrome from PubMed, Europe PMC, and Semantic Scholar, with AI-generated summaries at different reading levels.

195 / 195 papers

PaywalledPubMed

Clinical Profile and Surgical Outcomes of Bilateral Duane Syndrome with Exotropia.

Journal of binocular vision and ocular motility2026

Lasrado AS, Chattannavar G, Kekunnaya R

This research focused on individuals with Duane Syndrome affecting both eyes, particularly when the eyes turn outwards (exotropia). The study aimed to understand the common characteristics of this specific presentation and evaluate how effective surgical treatments are. This information is valuable for patients and parents, as it helps improve our understanding of bilateral Duane Syndrome and guides decisions about potential surgical interventions to improve eye alignment and function.

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Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

International ophthalmology clinics2026

Aufderheide K, Whitman MC

This research highlights new discoveries about Duane Syndrome, showing it's caused by a missing nerve and abnormal nerve connections that affect eye movement. Scientists are identifying specific genes linked to the condition, even though many cases don't have a known genetic cause yet. Understanding these genetic links helps doctors better predict how the condition might progress and guides personalized treatment plans for patients and their families.

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Different Laterality in Hereditary Monozygotic Twins with Duane Retraction Syndrome Type I: A Case Report.

Journal of binocular vision and ocular motility2026

Jafari R, Ghaffari A, Razavi A, Heidari Z

This research examined identical twins who both inherited Duane Syndrome, but it affected different eyes in each twin. Since Duane Syndrome can run in families and its exact cause is unknown, studying such cases helps researchers understand why it develops and why its symptoms can vary so much, even in people with the same genes. This case report aims to provide insights into the potential factors influencing the condition's presentation.

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Clinical profile and surgical outcomes of Duane syndrome with primary position hypertropia with or without coexisting horizontal deviation.

Strabismus2026

Sachdeva V, Vepakomma T, Chandrasekharan A, Kekunnaya R

This research focused on individuals with Duane Syndrome who also experience one eye being higher than the other when looking straight ahead, sometimes alongside other horizontal eye misalignments. The study reports on how these specific eye alignment problems present and how effective surgery is at correcting them, providing important insights for patients and parents considering treatment options.

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Under Pressure: Increased Intracranial Pressure in Infants and Children. Presented at the 2024 AOC/AACO/AAO Sunday Symposium.

Journal of binocular vision and ocular motility2026

Yuen T, Vyas A, Tahir S, Chang M

This research discusses increased pressure inside a child's head, known as intracranial hypertension (ICH), and its potential signs. One important sign doctors look for is a specific type of eye movement problem called abducens nerve palsy. While Duane Syndrome can also affect eye movement, this paper highlights that Duane Syndrome is a distinct condition that needs to be considered when evaluating eye movement issues, but it is not typically a cause of or caused by increased intracranial pressure itself.

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Inverse Duane's retraction syndrome: rare presentation of orbital myocysticercosis.

Strabismus2025

Gokahru S, Gupta E, Das S

This study describes three unusual cases where an eye muscle infection (myocysticercosis) caused symptoms that closely mimicked acquired inverse Duane's retraction syndrome. Unlike true Duane Syndrome, this infection is treatable with medication (albendazole), leading to the resolution of the cyst and improved eye movement. The findings emphasize that healthcare providers, especially in areas where this infection is common, should consider myocysticercosis when someone develops sudden eye movement problems resembling inverse Duane's, as early diagnosis allows for effective treatment.

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Marcus Gunn jaw winking associated with Duane's retraction syndrome.

Strabismus2025

March de Ribot F, March de Ribot A, Visa J

This research describes a rare case of a 4-year-old boy presenting with both Duane Retraction Syndrome (DRS), affecting his left eye's movement, and Marcus Gunn Jaw-Winking Syndrome (MGJWS), causing his left eyelid to lift with jaw movements. Following an elevator resection surgery, the patient achieved excellent functional and cosmetic results, leading a normal life without visual or appearance concerns. This report highlights the unusual co-occurrence of these conditions and demonstrates that effective surgical interventions can lead to positive outcomes for complex neuro-ophthalmic presentations.

Open AccessPubMed

Ocular-induced abnormal head postures: A systematic review and analysis.

Survey of ophthalmology20252 citations

Al-Dabet S, Turaev S, Zaki N

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This research reviewed many studies to understand why individuals with eye conditions, such as Duane Syndrome, often adopt abnormal head postures like tilting or turning their head. It found that these postures are usually a way to improve vision, reduce double vision, or use their eyes more comfortably. The study helps us better understand these compensatory mechanisms, which is important for improving diagnosis and treatment strategies for conditions like Duane Syndrome.

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Successful outcome in synergistic divergence after unilateral lateral rectus recession and medial rectus resection.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2025

Zhou HY, Langue M, Tien DR

Synergistic divergence, a rare type of Duane Syndrome, causes both eyes to move outward unusually when looking to one side, often leading to a compensatory head turn. This study describes a young man whose long-standing head turn was successfully corrected with a specific eye muscle surgery. The doctors performed a large recession and resection on his eye muscles, showing this approach can be an effective alternative for treating this complex condition where surgical options are still being explored.

PaywalledPubMed

Y-split Recession of Lateral Rectus With and Without Medial Rectus Recession in the Management of Exotropic Duane Retraction Syndrome With Significant Overshoot and Retraction.

Journal of pediatric ophthalmology and strabismus2025

Farvardin H, Safari F, Safari F, Farvardin H, Farvardin M

This research compared two surgical methods for a specific type of Duane Syndrome where the eye turns outward significantly and pulls back. The study aimed to find out if a particular muscle surgery (Y-split recession of the lateral rectus) worked better on its own, or if adding another muscle surgery (medial rectus recession) improved eye alignment and reduced the eye pulling back into the socket.

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Type III Duane Retraction Syndrome and Monocular Elevation Deficiency, Simultaneous Presentation in a 16-year-old girl.

Romanian journal of ophthalmology2025

Farvardin H, Farvardin M, Zare K

This research paper reports the first documented case of a patient simultaneously presenting with Duane Retraction Syndrome (DRS) and Monocular Elevation Deficiency (MED). A 16-year-old girl exhibited classic signs of Type III DRS along with difficulty moving her right eye upwards. This finding is significant as it broadens our understanding of the various congenital eye conditions that can co-occur with Duane Syndrome. It highlights the importance for clinicians to consider the possibility of multiple distinct strabismus conditions in patients with complex eye movement disorders.

PaywalledPubMed

Angiographically silent macular retinoschisis and vitreomacular traction in a patient with same - side Duane retraction syndrome.

Strabismus2025

Kefeli I, Yaman A, Saatci AO

This paper describes a 75-year-old woman with Duane Syndrome who was also found to have a rare eye condition called macular retinoschisis in the same eye. While this is the first time these two conditions have been reported together, the researchers believe their co-occurrence is likely a coincidence, not a direct link to Duane Syndrome. This suggests that having Duane Syndrome doesn't necessarily make you more prone to developing macular retinoschisis.

Open AccessPubMed

Astigmatism in Duane Retraction Syndrome

BMC Ophthalmology2025Semantic Scholar3 citations

Masoud Khorrami-Nejad, M. Akbari, Babak Masoomian, Hayder Ali Mahmood, Kimia Daneshvar, Ali Majdi

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A recent study involving over 300 patients with Duane Syndrome found that astigmatism, a common refractive error causing blurry vision, is highly prevalent in this population. The research showed that the specific type of astigmatism (e.g., with-the-rule, against-the-rule) often varies depending on the type of Duane Syndrome, and even the unaffected eye can show astigmatic changes, particularly in Type 2 DRS. These findings suggest a connection between the eye muscle issues in Duane Syndrome and the shape of the cornea. Therefore, comprehensive astigmatism assessment is crucial for all Duane Syndrome patients to ensure optimal vision correction and management.

AI summary based on abstract + full-text conclusions

PaywalledPubMed

Restrictive strabismus caused by infantile myositis masquerading as Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2025Semantic Scholar

Weiyi Xia, Jing Yao, Xinyi Zhao, Chao Jiang, Ling Ling, Chen Zhao

This paper describes a child initially diagnosed with Duane Syndrome due to symptoms like an outward-turning eye and limited inward movement. However, because the symptoms appeared later in infancy, doctors investigated further. They discovered the child actually had a different condition: a stiff lateral rectus muscle, not Duane Syndrome, which was successfully treated with surgery. This case reminds us that other eye conditions can look very similar to Duane Syndrome, especially if symptoms appear later in life.

PaywalledPubMed

Responding to comments on “Astigmatism in Duane Retraction syndrome”

BMC Ophthalmology2025Semantic Scholar

Masoud Khorrami-Nejad, M. Akbari, Babak Masoomian, Hayder Ali Mahmood, Kim Daneshvar, Ali Majdi

This research clarifies findings about astigmatism, a type of blurry vision, in people with Duane Syndrome. It suggests that when eye muscles pull against each other (co-contraction), it can change the shape of the eye's front surface (cornea), often leading to a specific type of astigmatism called "against-the-rule." This understanding helps explain why some individuals with Duane Syndrome experience particular vision challenges, regardless of their age.

Open AccessPubMed

Etiology and clinical features of Han Chinese patients with Duane retraction syndrome

Frontiers in Genetics2025Semantic Scholar

Lijuan Huang, Baoying Chen, Chi Cai, Yuyu Wu, ZhiMin Sun, Yan Xie, Ningdong Li

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This study investigated the causes and features of Duane Syndrome, including genetic factors and nerve development, finding new genetic links and confirming that issues with eye nerve development are a major cause. Personalized surgery was shown to effectively improve eye alignment, vision, and appearance, though the study highlights that Duane Syndrome has complex causes and treatment must be tailored to each patient.

AI summary based on abstract + full-text conclusions

PaywalledPubMed

Surgical Management of a Prominent Adduction-Induced Upshoot in Duane Retraction Syndrome Type III: A Case Report

Cureus2025Semantic Scholar

Miwa Komori, Miho Sato, Akari Arakawa, Hiroki Kaneko, Akiko Hikoya

This case report describes a 29-year-old man with Duane Syndrome Type III who had an eye that moved upward (an 'upshoot') when he looked inward, even though his eyes were straight most of the time. He chose to have surgery for cosmetic reasons. Doctors performed a procedure that involved weakening two eye muscles, and one year later, his upshoot was significantly reduced, and he was pleased with the appearance. This suggests that surgery can be a good option for improving the cosmetic appearance of an upshoot in Duane Syndrome, even when primary eye alignment is good.

Open AccessPubMed

Comment on: “Astigmatism in Duane Retraction Syndrome”

BMC Ophthalmology2025Semantic Scholar

Hajar Farvardin, Majid Farvardin

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This paper explores how the unique eye movements in Duane Syndrome might be connected to astigmatism, a common type of blurry vision. It suggests that the strong pulling of eye muscles could change the shape of the front of the eye, leading to this vision issue. Researchers are still working to understand this link better, especially considering different types of Duane Syndrome and how age might play a role.

PaywalledDOI

Double fold, double trouble: Duane retraction syndrome and epicanthus in a 2-year-old girl

The Pan-American Journal of Ophthalmology2025Semantic Scholar

Shrinkhal, Kushal Singh, Pragati Garg, Ruchi Shukla, Nilakshi Banerjee

This research describes a 2-year-old girl diagnosed with Duane Syndrome Type 1, who experienced difficulty moving her left eye outward. She also presented with epicanthus, a common skin fold near the inner corner of the eye, which can sometimes make eyes appear crossed. An MRI confirmed the absence of a key nerve in her left eye. Given her good vision and straight eye alignment when looking forward, doctors opted for careful monitoring rather than immediate surgery, highlighting the value of early diagnosis and observation, especially when Duane Syndrome is accompanied by other features like epicanthus.

Open AccessPubMed

Long-term surgical outcomes of esotropic duane retraction syndrome type 1

Scientific Reports2025Semantic Scholar

Jihae Park, H. Yang, Jeong-Min Hwang

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This study looked at the long-term results of eye surgery for a common type of Duane Syndrome where the eye turns inward. It found that surgery was successful in straightening the eyes for most patients (about 77%) over several years. However, a small number of patients experienced a gradual outward drift of the eye over time after surgery. This means it's important for your surgeon to carefully plan the surgery and discuss the possibility of this long-term change with you.

Open AccessPubMed

Duane Retraction Syndrome: A Report of Two Cases and Review of Literature.

Cureus2025

Abu Melha A, Abbas AI, Alghamdi WS, Alghamdi SM, Alkhathami A

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This research paper discusses Duane Syndrome, a condition present from birth where the eye has trouble moving outwards due to nerve issues. It highlights that this condition is sometimes mistaken for other eye problems, emphasizing the need for careful diagnosis to ensure patients receive the correct management. For the two cases presented, observation was recommended, with surgery considered only if symptoms like abnormal head position or eye crossing develop.

Open AccessPubMed

Duane retraction syndrome associated with <i>EP300</i> variant of Rubinstein-Taybi syndrome.

American journal of ophthalmology case reports2025

Tran L, Oatts JT, Indaram M

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This paper describes a child with Duane Retraction Syndrome (DRS) who was also found to have a specific genetic type of Rubinstein-Taybi syndrome (RTS). This case report suggests that the genetic changes causing RTS might sometimes be linked to eye movement issues like DRS. Understanding this connection could help researchers learn more about the different reasons why someone might develop Duane Syndrome.

Open AccessPubMed

Trigemino-abducens synkinesis: serial review over 4 years.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20241 citations

Corbett JW, Redmayne JK, Russell HC

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This research investigated trigemino-abducens synkinesis, a congenital cranial dysinnervation disorder (CCDD) that, like Duane Syndrome, involves abnormal nerve connections affecting eye movement. By presenting serial video of a child, the study aimed to characterize this lesser-known CCDD, improving recognition and contributing to our understanding of the broader group of these complex eye conditions.

PaywalledPubMed

Duane syndrome associated with Rubinstein-Taybi syndrome type II.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20241 citations

Sharma A, Suraneni S, Bitrian E, McKeown CA

Researchers reported a rare case where an infant with Duane Syndrome also had Rubinstein-Taybi syndrome type II, a genetic condition. This finding suggests that Duane Syndrome might sometimes be linked to other genetic conditions, especially this specific type of Rubinstein-Taybi syndrome. It highlights the importance for doctors to consider genetic testing if a child with Duane Syndrome has other unusual features.

PaywalledPubMed

Relationship between retraction and refraction values in patients with Duane's retraction syndrome.

Journal francais d'ophtalmologie20242 citations

Yuzbas&#x131;oglu S, Icoz M, Yaman D, Yulek F

This research explored the connection between the eye retraction characteristic of Duane Syndrome and the presence of refractive errors, which determine the need for glasses. By evaluating these findings, the study aimed to understand if the severity of eye retraction influences vision problems. This information is important for parents and patients, as it helps ensure comprehensive eye care, including appropriate vision correction, for those living with Duane Syndrome.

PaywalledPubMed

Lateral Rectus Disabling and Simultaneous Modified Nishida Procedure for Exotropic Duane Retraction Syndrome.

Journal of binocular vision and ocular motility2024

Arcot Sadagopan K, Raghunandan N, Saswade NS, Kushner BJ

This research describes a new surgical approach for Exotropic Duane Syndrome, a condition where the eye turns outward, often causing a head tilt and difficulty turning the eye inward. The surgery, which combines two specific procedures, successfully reduced the outward turn of the eye, improved head posture, and lessened other symptoms like eye retraction and narrowing of the eye opening. Importantly, it also improved the ability of the eyes to work together, offering a promising treatment to improve both appearance and function.

PaywalledPubMed

Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2024

Li J, Kolin DA, Nallasamy S, Kolin T

This research paper describes a 17-year-old woman who has Duane Syndrome and was also found to have a very rare genetic condition called ALG12-CDG. ALG12-CDG is a type of Congenital Disorder of Glycosylation (CDG), which affects how the body builds important proteins. This is the first time Duane Syndrome has been reported in someone with ALG12-CDG, suggesting a potential new link between these conditions. This finding helps doctors learn more about the possible genetic factors that might be associated with Duane Syndrome.

PaywalledPubMed

MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie20241 citations

Yang T, Li X, Wang K, Zhang Q, Hao R, Zhang W

This research used MRI scans to closely examine the eye muscles and nerves in people with Duane Syndrome and a related condition called CFEOM. The study aimed to identify specific changes in these structures that could help doctors better understand and diagnose these complex eye movement disorders. This could potentially lead to more accurate and earlier diagnoses for patients.

Open AccessPubMed

Refractive features and amblyopia in Duane's Retraction Syndrome: A review of the 582 patients.

Journal of optometry20244 citations

Khorrami-Nejad M, Akbari MR, Sadeghi M, Masoomian B, Mirmohammadsadeghi A, Khalaf Mohsin M, Hamad N

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This study examined 582 patients with Duane Syndrome to understand common vision problems, such as needing glasses (refractive errors) and the occurrence of a 'lazy eye' (amblyopia). The findings help patients and parents know what visual challenges to look for, emphasizing the importance of regular eye exams for early detection and treatment in individuals with Duane Syndrome.

Open AccessPubMed

Rates of Reoperation in Duane Retraction Syndrome.

Ophthalmology science2024

Lim HW, Hwang B, Archambault C, Lambert SR

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This research focused on eye surgeries for Duane Retraction Syndrome. The study aimed to understand the different types of operations performed and, importantly, how often patients might need a second surgery to correct their eye alignment. This information helps patients and parents better understand the potential surgical journey and long-term care for Duane Syndrome.

PaywalledPubMed

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.

Strabismus2024

Wang M, Liu J, Pang H, Bu J

This research studied a Chinese family with different forms of Duane Syndrome to understand its causes better. They identified a previously unknown genetic change in the CHN1 gene, which could explain some of the varied ways Duane Syndrome appears. This finding is important because it adds to our knowledge about the genetic basis of Duane Syndrome and helps doctors improve how they manage the condition for patients.

Open AccessPubMed

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.

Hormone research in paediatrics20244 citations

Kodytkov&#xe1; A, Amaratunga SA, Zemkov&#xe1; D, Maratov&#xe1; K, Du&#x161;&#xe1;tkov&#xe1; P, Plach&#xfd; L, Pr&#x16f;hov&#xe1; &#x160;, Kolou&#x161;kov&#xe1; S, Lebl J

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This study investigated a family with a genetic change in the SALL4 gene, which is crucial for the early development of many body parts, including limbs and kidneys. SALL4 gene changes are known to cause conditions like Duane-radial ray syndrome. In this particular family, the SALL4 variant was passed down through generations, leading to issues with arm development (radial hypoplasia) and kidney placement (kidney dystopia), with one family member also experiencing growth hormone deficiency. This research helps us understand the broad range of health issues that can be linked to SALL4 gene changes, offering insights for diagnosis and care in individuals with Duane Syndrome and related conditions.

Open AccessPubMed

Magnetic Resonance Imaging Findings in Patients With Duane Retraction Syndrome.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society20243 citations

Guo Y, Zhang Q, Zhang T, Guo L, Liu S, Zhao K, Zhang W

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This research utilized MRI scans to investigate the specific eye nerves (oculomotor and abducens) and extraocular muscles in individuals with Duane Syndrome. The study aimed to identify any physical differences in these structures and understand how they relate to the unique eye movement patterns characteristic of the condition. This information could deepen our understanding of the underlying causes of Duane Syndrome.

Open AccessPubMed

Duane syndrome: An overview on the current management.

Taiwan journal of ophthalmology20243 citations

Prasad P, Saxena A, Saxena R

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This paper explains that Duane Syndrome is a common condition where the nerves controlling eye muscles are wired incorrectly, causing restricted eye movement, the eye to pull back, and other issues. It highlights that diagnosis is clinical and surgical treatment is highly individualized, aiming to improve eye alignment, reduce eye retraction, and correct any unusual head postures. The study emphasizes that different surgical techniques, like adjusting eye muscles, are chosen specifically for each patient to achieve the best results.

PaywalledPubMed

Evaluation of auditory pathways and comorbid inner ear malformations in pediatric patients with Duane retraction syndrome.

International journal of pediatric otorhinolaryngology2024Semantic Scholar1 citations

G. Atay, Burçay Tellioğlu, Hilal Toprak Tellioğlu, Nizamettin Burak Avcı, B. Cinar, H. T. Şekeroğlu

This study investigated hearing in children with Duane Syndrome, checking for hearing loss and how the brain processes sound. They found that while most children had normal hearing, a few had significant hearing loss linked to specific problems in their inner ear. The study suggests that Duane Syndrome itself doesn't cause hearing loss through brain pathway issues, but rather, any hearing loss might be due to these inner ear malformations.

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Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Oman journal of ophthalmology20231 citations

Kishore H

This research paper discusses various eye conditions that can be associated with achondroplasia, a genetic disorder affecting bone development. It highlights that Duane Syndrome is among the ocular anomalies that may be present in individuals with achondroplasia. The authors emphasize the importance of routine, detailed ophthalmological screening for all achondroplasia patients to ensure timely detection and management of potential eye complications.

PaywalledPubMed

Modified Nishida Procedure Combined with Lateral Rectus Disabling for Duane Retraction Syndrome.

Journal of binocular vision and ocular motility20233 citations

Arcot Sadagopan K, Lin LD, Kushner BJ

For patients with Duane Syndrome where the eye turns inward and pulls back, choosing the right surgery can be complex. This study explored novel combinations of existing eye muscle surgeries in two patients to improve eye alignment and reduce eye retraction. They combined a modified Nishida procedure, which involves repositioning vertical eye muscles, with other adjustments to the horizontal eye muscles. This research offers insights into potentially more effective surgical strategies for complex cases of Duane Syndrome.

Open AccessPubMed

Wildervanck syndrome: clinical case report.

Archivos argentinos de pediatria20232 citations

Chima-Gal&#xe1;n MDC, S&#xe1;nchez-Beltr&#xe1;n NA, Garc&#xed;a-Ortiz L

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Wildervanck syndrome is a very rare condition characterized by a specific set of features: Duane syndrome, fusion of neck bones (Klippel-Feil anomaly), and hearing loss. This research paper describes a patient who presented with all three of these main features, along with additional symptoms not previously documented. By sharing these new findings, the report helps medical professionals better understand the full range of ways Wildervanck syndrome can affect individuals, which is important for diagnosis and care.

Open AccessPubMed

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

BMC medical genomics20237 citations

Ajam-Hosseini M, Parvini F, Angaji A

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This research highlights a newly identified genetic change in the SALL4 gene in a patient with Duane Syndrome. The SALL4 gene is known to cause a spectrum of conditions, including Duane-radial ray syndrome, Okihiro, and Holt-Oram syndromes. This study reinforces that these seemingly distinct conditions are actually unified as 'SALL4-related disorders,' improving our understanding of their shared genetic basis and variable presentation.

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Concomitant Unilateral Duane Retraction Syndrome and Contralateral Brown's Syndrome.

Journal of binocular vision and ocular motility20232 citations

Mirmohammadsadeghi A, Akbari MR, Soltani Shahgholi S

This research describes a 10-year-old boy born with his eyes misaligned, presenting with a rare combination of conditions. He was found to have Duane Retraction Syndrome in one eye and Brown's Syndrome in the other, an unusual pairing not seen in his family. The doctors suggest this unique combination might be due to an event during early development or a genetic change, highlighting the diverse ways eye movement disorders can present.

PaywalledPubMed

Duane Retraction Syndrome: The Role of Botulinum Toxin A Injection in Adults and Its Impact on Quality of Life in an Indian Population.

Journal of pediatric ophthalmology and strabismus20232 citations

Anand K, Hariani A, Kumar P, Rastogi A, Dutta P, Krishnan A

This research aimed to understand if botulinum toxin A injections could be a helpful treatment for adults living with Duane Retraction Syndrome. The study specifically investigated how this treatment might affect their quality of life, helping them manage their condition better in daily activities.

Open AccessPubMed

Refractive error in unilateral Duane syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20224 citations

Young MP, Ployprasith W, Brintz BJ, Rutar T

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This research investigated if the unique muscle co-contraction in Duane Syndrome, where the medial and lateral rectus muscles pull at the same time, could lead to a specific type of refractive error called 'against-the-rule astigmatism.' The study aimed to determine if the affected eye in unilateral Duane Syndrome experiences more of this particular astigmatism compared to the unaffected eye, potentially explaining certain vision differences.

Open AccessPubMed

Duane Retraction Syndrome With Mechanical and Innervational Upshoot and Secondary Superior Rectus Contracture: A Surgical Challenge.

Cureus20222 citations

Cheah JASS, Tharmathurai S, Bahari NA, Rahmat J, Muhammed J

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This paper describes a challenging case of Duane Syndrome where a child's eye significantly deviated upwards and had limited movement. Surgeons performed a complex set of procedures, including Y-splitting and recession of the lateral and superior rectus muscles, to address the severe upward drift. The surgery successfully reduced the significant upward deviation, greatly improving the eye's alignment, although some upward movement persisted when the eye looked inward. This case demonstrates a successful surgical strategy for managing severe and complex forms of Duane Syndrome.

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Clinical characteristics and surgical approach in Duane retraction syndrome: a study of 691 patients.

Japanese journal of ophthalmology202212 citations

Masoomian B, Akbari MR, Mirmohamadsadeghi A, Aghsaei Fard M, Khorrami-Nejad M, Hamad N, Heirani M

This large study of 691 patients investigated the diverse clinical features of Duane Syndrome and the effectiveness of various surgical interventions. It offers important insights into how the condition presents differently and how surgery can improve eye movement and appearance. This research helps doctors better understand and personalize treatment plans, leading to improved quality of life for patients and their families.

PaywalledPubMed

Clinical profile and magnetic resonance imaging characteristics of Duane retraction syndrome.

Oman journal of ophthalmology20222 citations

Suma U, Ferzana M, Babitha V, Jyothi P

This study aimed to better understand Duane Retraction Syndrome by examining both how the eyes move (clinical profile) and what brain scans (MRI) show in affected individuals. Researchers sought to describe these features and determine if there's a relationship between a patient's eye movement patterns and their brain imaging characteristics. This research helps improve our overall understanding of DRS, which can inform future diagnostic approaches and patient care.

Open AccessPubMed

A three-dimensional analysis of the development of cranial nerves in human embryos.

Clinical anatomy (New York, N.Y.)20227 citations

Smit JA, Jacobs K, Bais B, Meijer B, Seinen MN, de Bree K, Veldhuis T, Hagoort J, de Jong KH, Breugem CC, Oostra RJ, de Bakker BS

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This research investigated how cranial nerves, which control vital functions like eye movement, normally develop in human embryos during the very early stages of pregnancy. Understanding this precise developmental timeline is essential for uncovering the root causes of neurodevelopmental conditions like Duane Syndrome. The study found that most cranial nerves begin forming around 4 weeks and connect to their target organs by 6 weeks, with their growth being most active around that time. This detailed 3D analysis offers new insights into early human embryology.

Open AccessPubMed

Duane Retraction Syndrome and Accompanying Ocular Abnormalities.

Beyoglu eye journal20224 citations

Kocamaz M, Aygit ED, Inal A, Ocak OB, Cicek U, Gokyigit B

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Duane Retraction Syndrome (DRS) is a congenital condition affecting eye movement, often causing limitations, eyelid narrowing, or the eye pulling back. This study aimed to thoroughly evaluate the specific eye findings present in patients diagnosed with DRS. By detailing these ocular characteristics, the research helps improve our understanding and management of the diverse ways DRS can manifest in the eyes.

Open AccessPubMed

A <i>de&#xa0;novo</i> mutation of <i>SALL4</i> in a Chinese family with Okihiro syndrome.

Molecular medicine reports20225 citations

Ma X, Huang R, Li G, Zhang T, Ma J

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This study investigated a patient with Okihiro syndrome, a condition that includes Duane anomaly along with arm/hand differences and hearing loss. Researchers identified a new, spontaneous (not inherited from parents) change in the *SALL4* gene as the cause of Okihiro syndrome in this individual. This finding is important because it adds to our understanding of the genetic origins of Okihiro syndrome, which can help with diagnosis and potentially future research for related conditions like Duane anomaly.

Open AccessPubMed

Pathologic Study of Supernumerary Orbital Band in Type I Duane Syndrome.

Ocular oncology and pathology20225 citations

Ali MH, Pineles SL, Velez FG, Tandon AK, Glasgow BJ

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This research investigated an uncommon extra band of tissue found deep within the medial rectus muscle of a patient with Type I Duane Syndrome. The study aimed to determine the exact composition of this band, such as whether it was muscular or fibrous, to better understand the anatomical characteristics and potential causes of Duane Syndrome.

Open AccessPubMed

The clinical characteristics of Duane retraction syndrome in Al-Medina region.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society20223 citations

Alreheli AQ, Aloufi MM, Aalam W, Kordi ES, Al-Habboubi HF

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Researchers at Ohud Hospital in Al-Medina conducted a study to better understand the specific clinical features of Duane Retraction Syndrome (DRS) in children attending their pediatric ophthalmology clinic. This research aims to provide valuable insights into how DRS presents in patients from this particular region, which can help improve diagnosis and care for affected individuals.

Open AccessPubMed

Lateral rectus recession for consecutive exotropia in esotropic Duane syndrome: A case report.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society20221 citations

Alobaisi S, Alabduljabbar K, Alyahya A, Aldaghri A

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This case report describes a young patient with Duane Syndrome Type 1 whose eye initially turned inward. After surgery to correct this, her eye began to turn outward, a rare complication. Doctors performed a second surgery on a different eye muscle, the lateral rectus, which successfully straightened her eye and improved her head tilt. This suggests that a lateral rectus recession can be an effective treatment for this specific complication in Duane Syndrome patients.

Open AccessPubMed

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

Molecular cytogenetics20221 citations

Yokoyama E, Villarroel CE, Diaz S, Del Castillo V, P&#xe9;rez-Vera P, Salas C, G&#xf3;mez S, Barreda R, Molina B, Frias S

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This study reports on a patient with Duane Retraction Syndrome (DRS) who was found to have a specific genetic change called a 'non-classical 1p36 deletion.' While 1p36 deletions are known to cause various health issues and eye problems like strabismus, DRS has only been reported once before in connection with this genetic condition. This new case expands our understanding of the potential genetic causes of Duane Syndrome, suggesting that different types of 1p36 deletions might be involved. It highlights the importance of genetic testing for a broader range of deletions in patients with DRS.

Open AccessPubMed

Surgical treatment of Duane retraction syndrome.

Journal of current ophthalmology202229 citations

Akbari MR, Manouchehri V, Mirmohammadsadeghi A

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This research paper reviewed the various surgical treatments available for Duane retraction syndrome (DRS). It highlights that treating DRS surgically can be complex due to the wide range of ways the condition can appear in different individuals. The study aims to help patients and their families understand that there are diverse surgical approaches, emphasizing the importance of discussing these options with a strabismus specialist to find the most suitable treatment.

Open AccessPubMed

Botulinum toxin injection in the patients with Duane syndrome type 1.

Journal of current ophthalmology202213 citations

Ameri A, Farzbod F, Bazvand F, Mirmohammadsadeghi A, Akbari M, Anvari F, Hosseini S

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This study evaluated botulinum toxin injections as a treatment for Duane Syndrome type 1, aiming to improve eye movement and alignment. Researchers found that this treatment can be effective in managing symptoms and identified specific patient characteristics that predict a successful outcome. This offers a valuable non-surgical option for individuals living with Duane Syndrome.

Open AccessPubMed

Expanding the Phenotype of the <i>FAM149B1</i>-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Genes20223 citations

Siegert S, Mindler GT, Br&#xfc;cke C, Kranzl A, Patsch J, Ritter M, Janecke AR, Vodopiutz J

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This study identified that changes in the *FAM149B1* gene can cause Duane Syndrome, along with a range of other symptoms like specific walking difficulties, eye movement problems, and sometimes extra fingers or toes. Researchers studied adults and found that while these symptoms are present from birth, kidney, liver, and retinal functions remain normal. This new information helps us better understand the full picture of conditions linked to this gene and Duane Syndrome, showing a generally stable outcome in adulthood.

Open AccessPubMed

Superior Rectus Transposition in the Management of Duane Retraction Syndrome: Current Insights.

Clinical ophthalmology (Auckland, N.Z.)20222 citations

Negalur M, Sachdeva V, Kekunnaya R

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This research paper discusses Superior Rectus Transposition (SRT), a surgical option for Duane Syndrome. It shows that SRT can effectively improve eye alignment, reduce abnormal head posture, and enhance eye movement, often with fewer complications and shorter surgery time than previous techniques. For patients and parents, this means SRT is a promising and evolving treatment that can significantly improve daily life for those with Duane Syndrome.

Open AccessPubMed

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Ophthalmic genetics20228 citations

Godfrey D, Torres A, Heidary G, Zahoor H, Lee A, Berry G, Engle E

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This study describes a 7-year-old girl with Duane Retraction Syndrome, stiff joints (arthrogryposis), and a unique eye movement (Marcus Gunn phenomenon). Researchers discovered that a specific change in the ZC4H2 gene caused all these conditions, identifying it as a presentation of Wieacker-Wolff Syndrome. This finding is important because it expands our understanding of the genetic causes of Duane Syndrome, especially when it occurs with other symptoms, and can help guide diagnosis and management for affected individuals.

Open AccessPubMed

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

Journal of human genetics20227 citations

Nishina S, Hosono K, Ishitani S, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata T, Ishitani T, Hotta Y, Azuma N

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This research identified a new genetic syndrome caused by changes in the CDK9 gene, which presents with multiple birth defects resembling CHARGE syndrome. Key features include an eye movement deficit that looks like Duane Syndrome, severe early-onset retinal dystrophy, and other anomalies like facial asymmetry and cardiac issues. For individuals diagnosed with Duane Syndrome, especially those with additional complex health problems or significant vision loss, this study suggests a potential underlying genetic cause that warrants further investigation.

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Hummelsheim procedure combined with medial rectus recession in complete sixth nerve palsy and esotropic Duane Retraction Syndrome.

European journal of ophthalmology20226 citations

Bagheri A, Veisi A, Tavakoli M

This research paper aimed to evaluate a specific surgical approach for individuals experiencing an eye that turns inward due to conditions such as esotropic Duane Retraction Syndrome or complete sixth nerve palsy. The procedure combines a half tendon vertical rectus muscle transposition (a type of muscle repositioning surgery) with a medial rectus muscle recession (a procedure to weaken the muscle pulling the eye inward). The study's purpose was to determine the effectiveness of this combined surgery in improving eye alignment and movement for these patients, potentially offering a valuable treatment option.

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William F. Hoyt's Role in Identifying the Pathogenesis of Duane Retraction Syndrome.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society20222 citations

Miller NR

This research highlights Dr. William F. Hoyt's significant role in uncovering the cause of Duane Syndrome. The study clarifies that the condition is not a muscle problem, but rather a congenital nerve issue. It explains that the sixth cranial nerve, which normally moves the eye outward, is absent from birth, and the lateral rectus muscle is instead controlled by branches of the third cranial nerve. This understanding is crucial for accurate diagnosis and explaining the condition to patients and families.

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Cyclosporine A Treatment of Proteinuria in a New Case of MAFB-Associated Glomerulopathy without Extrarenal Involvement: A Case Report.

Nephron20217 citations

Kaimori JY, Mori T, Namba-Hamano T, Morimoto T, Takuwa A, Motooka D, Okazaki A, Kobayashi K, Asahina Y, Kajimoto S, Doi Y, Oka T, Sakaguchi Y, Nakaya A, Isaka Y

This study describes a patient with kidney disease (FSGS) caused by a change in the MAFB gene, which is also linked to Duane Syndrome. While previous treatments haven't worked well for MAFB-related kidney issues, this patient responded positively to cyclosporine A, significantly reducing their proteinuria. This suggests cyclosporine A could be a new, effective treatment option for people with MAFB-related kidney disease, including those with Duane Syndrome.

Open AccessPubMed

The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System.

The Journal of neuroscience : the official journal of the Society for Neuroscience20217 citations

Carretero-Rodriguez L, Gu&#xf0;j&#xf3;nsd&#xf3;ttir R, Poparic I, Reilly ML, Chol M, Bianco IH, Chiapello M, Feret R, Deery MJ, Guthrie S

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This research investigated the underlying causes of Duane Retraction Syndrome (DRS), a condition linked to problems with the alpha2-chimaerin protein. The study identified new proteins, CRMP2 and stathmins, that work with alpha2-chimaerin to guide the development of eye movement nerves. By understanding this specific signaling pathway, scientists gain crucial insights into how DRS develops, potentially paving the way for future diagnostic or therapeutic approaches.

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Surgical Outcomes of Exotropic Duane Retraction Syndrome From a Tertiary Eye Care Center.

Journal of pediatric ophthalmology and strabismus20215 citations

Sheth J, Ezisi CN, Tibrewal S, Sachdeva V, Kekunnaya R

This research from a specialized eye hospital investigated the results of surgery for individuals with exotropic Duane Retraction Syndrome, a condition where the affected eye turns outward and pulls back into the socket. The study found that surgery can be an effective treatment to improve eye alignment and reduce the eye's retraction. This suggests that surgery offers a valuable option for patients and parents seeking to improve the cosmetic appearance and functional aspects of the eye.

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Superior Rectus Transposition and Medial Rectus Recession for Treatment of Duane Retraction Syndrome and Sixth Nerve Palsy.

Journal of binocular vision and ocular motility20217 citations

Akbari MR, Masoumi A, Mirmohammadsadeghi A

This study evaluated a specific eye muscle surgery (superior rectus transposition with medial rectus recession) for Duane Syndrome, aiming to improve eye alignment and movement. Researchers found the surgery significantly reduced inward eye turning (esotropia) and improved the ability to move the eye outward, without causing significant vertical eye deviations or twisted double vision. While some patients experienced a gradual inward drift of the eye over time, this sometimes helped correct if the eye initially turned too far outward. Overall, the findings suggest this surgery is an effective treatment option for improving eye position and movement in Duane Syndrome.

Open AccessPubMed

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

Clinical case reports20214 citations

Baris HN, Chan WM, Andrews C, Behar DM, Donovan DJ, Morton CC, Ranells J, Pal T, Ligon AH, Engle EC

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This research focused on a patient with Duane Syndrome who also had other health issues, finding very complex and unusual genetic changes on chromosome 8. These changes, including a flipped section and an extra piece of the chromosome, were difficult to detect, highlighting that standard genetic tests might miss such intricate causes. Understanding these specific genetic alterations helps us learn more about how Duane Syndrome develops, which could lead to better diagnostic tools and a deeper understanding of the condition for patients and families.

Open AccessPubMed

Contralateral lateral rectus muscle recession in a patient with unilateral exotropic Duane retraction syndrome type II: A case report.

Strabismus20213 citations

Mao K, Yan X, Ding K, Chen L, Lin X

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This case report describes a 9-year-old boy with Duane Syndrome in one eye who had surgery on his *other*, weaker eye because his affected eye was dominant. After surgery, his eyes were straight, and he no longer needed to turn his head to see, which is a common issue with Duane Syndrome. This suggests that in specific cases where the affected eye is preferred for vision, operating on the non-affected eye can be a successful way to improve eye alignment and reduce compensatory head turns.

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A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex congenita.

Strabismus20211 citations

Pawar N, Ravindran M, Chakravarthy S, Ramakrishnan R

This paper describes a unique case of a 10-year-old boy diagnosed with Type 2 Duane Syndrome, a condition affecting eye movement, who also has Arthrogryposis Multiplex Congenita (AMC), a disorder affecting joint mobility. The researchers highlight this association because it is rarely reported in medical literature. Understanding such rare co-occurrences can provide valuable insights into the underlying causes and potential connections between different congenital conditions, which may help in diagnosis and management for other patients.

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Incidence of symptomatic vertical and torsional diplopia after superior rectus transposition for esotropic Duane syndrome and abducens nerve palsy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus202114 citations

Escuder AG, Kazlas MA, Heidary G, Hunter DG, Zurakowski D, Dagi LR

This research investigated how often patients experience a specific type of double vision, called vertical and torsional diplopia, after undergoing superior rectus transposition (SRT) surgery. This surgery is performed to correct inward-turning eyes (esotropia) in individuals with Duane Syndrome or abducens nerve palsy. The study's goal was to report the incidence of this particular visual symptom, which helps patients and doctors understand potential post-operative visual changes.

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Adjustable graded augmentation of superior rectus transposition for treatment of abducens nerve palsy and Duane syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus202112 citations

Dagi LR, Elhusseiny AM

Researchers have developed a new, refined approach to superior rectus transposition (SRT) surgery for Duane Syndrome. This modified technique, called adjustable graded augmentation, aims to improve eye movement while significantly reducing the risk of unwanted side effects like double vision or eye misalignment after the operation. This could lead to better outcomes for patients.

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Bilateral augmented superior rectus transposition with medial rectus recession for bilateral esotropic Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20215 citations

Sachdeva V, Jain M, Badakere A, Kekunnaya R

For individuals with Duane Syndrome affecting both eyes and causing them to turn inward, a common surgery helps align the eyes but often doesn't improve outward eye movement much. This study explored a different, more comprehensive surgery for four patients with this condition. The new approach significantly improved their ability to move their eyes outwards, and most patients also achieved good eye alignment when looking straight ahead.

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The presence of anomalous extraocular bands in Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20214 citations

Sener EC, Yilmaz PT, Sa&#x11f;lam A

This research investigated patients undergoing surgery for Duane Syndrome to understand the presence of unusual extra bands around the eye muscles. The study aimed to determine how common these bands are and if they affect the symptoms or surgical outcomes experienced by individuals with Duane Syndrome, providing insights for patient care.

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Variant types of Duane retraction syndrome: synergistic divergences and convergences.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20212 citations

Shen T, Kang Y, Deng D, Wang Z, Qiu X, Yan J

This study examined four patients with Duane Syndrome who showed unique eye movement patterns, including eyes moving together or apart in an unusual coordinated way, and also abnormal vertical movements. Researchers also noted the presence of accessory fibrous bands in their eyes. Understanding these variant features helps healthcare providers recognize the full spectrum of Duane Syndrome, potentially leading to more accurate diagnosis and tailored treatment plans.

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Association of lateral rectus muscle volume and ocular motility with the abducens nerve in Duane's retraction syndrome.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie20212 citations

Yang HK, Kim J, Lee DS, Hwang JM

Researchers utilized advanced MRI scans to examine the lateral rectus muscle and eye movement in individuals with Duane Syndrome. They specifically investigated how the volume of this muscle and the eye's ability to move relate to the presence or absence of the abducens nerve, which is crucial for outward eye movement. Understanding these connections can provide deeper insights into the underlying causes of eye movement limitations in Duane Syndrome and potentially guide future management strategies.

Open AccessPubMed

Pseudo-Duane retraction syndrome after orbital myositis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20211 citations

Elhusseiny AM, Fridman G, Nihalani BR, Gaier ED

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This study describes a patient with orbital myositis, an inflammation of an eye muscle, who developed symptoms mimicking Duane Retraction Syndrome (DRS) after treatment. Initially presenting with pain and limited eye movement, the patient later showed eyelid narrowing when attempting to look inward, a characteristic sign of DRS. However, this was a 'pseudo-DRS,' meaning it looked like DRS but was actually a complication of the orbital myositis, highlighting that similar eye movement patterns can have different underlying causes.

Open AccessPubMed

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.

European journal of medical genetics20217 citations

Angelini C, Trimouille A, Arveiler B, Espil-Taris C, Ichinose N, Lasseaux E, Tourdias T, Lacombe D

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Duane Syndrome is an eye movement disorder often linked to specific genes. This research found that in a father and son with Duane Syndrome, a change in the CHN1 gene was also connected to other problems like swallowing difficulties and a missing shoulder muscle. This suggests the CHN1 gene plays a broader role in nerve development, helping us understand why some people with Duane Syndrome might have these additional, related issues.

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Superior Rectus Transposition With Medial Rectus Recession Versus Medial Rectus Recession in Esotropic Duane Retraction Syndrome.

Journal of pediatric ophthalmology and strabismus20217 citations

Abdallah MEI, Eltoukhi EM, Awadein AR, Zedan RH

This research aimed to compare two surgical approaches for treating esotropic Duane retraction syndrome, a condition where the eye turns inward. Researchers investigated whether an augmented superior rectus transposition (sometimes with an additional muscle recession) offers better results than just a simple medial rectus recession. The goal was to determine which method more effectively improves eye alignment and movement for patients.

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Ocular features of Townes-Brocks syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20216 citations

Valikodath NG, Jain S, Miller M, Kaufman LM

This paper reports on a patient with Townes-Brocks syndrome, a rare genetic condition, who was also found to have Duane syndrome in both eyes. Scans showed that the nerves responsible for eye movement were missing, along with other nerve issues. This finding is important because it helps us understand that Duane syndrome can sometimes be linked to other genetic conditions and problems with nerve development, giving us more clues about its causes.

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Surgical outcome of patients with unilateral exotropic Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20213 citations

Akbari MR, Masoumi A, Masoomian B, Mirmohammadsadeghi A, Mehrpour M

This study focused on a specific type of Duane Retraction Syndrome where one eye turns outward. Researchers investigated the unique clinical features and evaluated the effectiveness of surgical treatment in improving eye alignment. The findings aim to enhance our understanding of this condition and refine surgical approaches, offering valuable insights for patients and parents considering treatment options.

Open AccessPubMed

Clinical Features of Duane Retraction Syndrome: A New Classification.

Korean journal of ophthalmology : KJO202111 citations

Lee YJ, Lee HJ, Kim SJ

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This research developed a new classification system for Duane Retraction Syndrome (DRS) based on how the eyes are aligned when looking straight ahead. By categorizing DRS into different types, the study aims to improve our understanding of the condition's varied presentations. This new classification could lead to more precise diagnoses and potentially more tailored management strategies for individuals with Duane Syndrome.

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Reoperation in esotropic Duane retraction syndrome: Long-term motor outcome of superior rectus transposition.

European journal of ophthalmology20216 citations

Magli A, Rombetto L, Esposito Veneruso P

This research investigated the long-term effectiveness of a second surgery, called superior rectus transposition, for individuals with Duane Syndrome whose eyes still turned inward (esotropia) and who had an unusual head posture after their initial surgery. The study aimed to understand how well this specific procedure improved eye alignment and movement over many years. The findings help doctors determine if this reoperation can offer lasting benefits for patients struggling with persistent eye turning and head tilt.

Open AccessPubMed

Duane-minus (Duane sine retraction and Duane sine limitation): possible incomplete forms of Duane retraction syndrome.

Eye (London, England)20212 citations

Awadein A, Arfeen SA, Chougule P, Kekunnaya R

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This research explores variations of Duane Syndrome, termed 'Duane-minus,' where individuals exhibit some characteristic eye movement patterns but not the full set of symptoms like eye retraction or severe movement limitations. The study describes these potentially incomplete forms of the syndrome, including their features and treatment approaches. This understanding helps doctors more accurately diagnose and manage the diverse ways Duane Syndrome can present, leading to more personalized care for patients.

Open AccessPubMed

Augmented superior rectus muscle transposition in management of defective ocular abduction.

BMC ophthalmology20218 citations

Farid MF, Daifalla AEM, Awwad MA

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This research paper is investigating an enhanced surgical technique, 'augmented superior rectus muscle transposition' (SRT), for individuals experiencing defective ocular abduction due to esotropic Duane retraction syndrome (Eso-DRS) or chronic sixth nerve palsy. These conditions make it difficult to move the eye outward. The study's aim is to report the outcomes of this augmented SRT procedure, providing valuable insights into its effectiveness for improving eye movement in affected patients.

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A reformed "release hypothesis" for Marcus Gunn Syndrome, based on newer clinic observations and experimental evidences.

Medical hypotheses20215 citations

Liang H, Zhang J

This research paper discusses how Duane Syndrome (DS) is understood as a type of trigeminal oculomotor synkinesis (TOS), where specific eye movements can cause eyelid changes or eyeball retraction. The prevailing theory for DS is congenital miswiring, supported by observations of underdeveloped abducens nerves fusing with branches of the oculomotor nerve. This evidence suggests that the unique eye movements in DS are primarily due to these abnormal nerve connections present from birth.

Open AccessPubMed

Ocular structural changes in patients with Duane retraction syndrome: Does a correlation exist?

Indian journal of ophthalmology20211 citations

Kekunnaya R, Marella BL, Peguda HK, Sachdeva V

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This research aimed to determine if the eye affected by Duane Syndrome (DRS) shows specific structural differences compared to the healthy eye in the same individual. Scientists measured various aspects, including the eye's length, the thickness of the central retina, and the choroid, to identify any unique changes associated with DRS. The goal was to see if these structural variations exist, which could improve our understanding of how Duane Syndrome impacts eye development and health.

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Combined surgical strategy for management of unilateral exotropic Duane retraction syndrome associated with limitation of abduction.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20214 citations

Farid MF

This research explored a combined surgical approach for individuals with unilateral exotropic Duane retraction syndrome (XT-DRS) who experience an outward-turning eye, a compensatory head turn, and difficulty looking sideways. The surgery involved weakening the muscles that pull the eye outward in both eyes, along with repositioning parts of the vertical eye muscles. The study aimed to report the effectiveness of this strategy in improving eye alignment, enhancing the ability to move the eye outward, and correcting head posture, offering a potential solution for these complex symptoms.

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Imaging of congenital cranial dysinnervation disorders: What radiologist wants to know?

Clinical imaging202111 citations

Razek AAKA, Maher H, Kasem MA, Helmy E

This study used advanced imaging to look at the brains and eye structures of people with Duane Syndrome. Researchers consistently found that the 6th cranial nerve, which helps move the eye outwards, was either missing or very small. However, the eye muscles themselves were typically healthy. This helps doctors better understand the specific nerve issue that causes Duane Syndrome, which can aid in diagnosis and future research.

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Surgical outcome of exotropic Duane syndrome.

Seminars in ophthalmology20213 citations

Fouad HM, Awadein A, Youssef AA, Saeed H, Shousha SM

This research examined the success of surgery for people with Duane Syndrome where the eye turns outward. It found that surgery generally works well to correct the eye turn, with better results seen in younger patients and those with smaller eye deviations. While different surgical approaches were used, a combination of weakening one muscle and strengthening another showed good success for larger turns, though some bilateral procedures might increase head turning. This study helps doctors understand which patients might benefit most from surgery and what outcomes to expect.

Open AccessPubMed

Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.

Scientific reports20213 citations

Zhou TC, Duan WH, Fu XL, Zhu Q, Guo LY, Zhou Y, Hua ZJ, Li XJ, Yang DM, Zhang JY, Yin J, Zhang XF, Zhou GL, Hu M

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This research identified a new genetic change, or variant, in the CHN1 gene (p.(Phe213Val)) in a Chinese family with Duane Syndrome, an eye movement disorder. This finding is important because it suggests that the CHN1 gene is a significant cause of Duane Syndrome across different ethnic backgrounds. Understanding these specific genetic causes can lead to improved diagnosis and potentially new ways to manage the condition in the future.

Open AccessPubMed

Pearls and pitfalls in the management of Duane syndrome.

Taiwan journal of ophthalmology202013 citations

&#xd6;zkan SB

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This paper on Duane Syndrome, a common eye movement disorder present from birth, highlights its varied clinical presentation. It emphasizes that treatment must be highly individualized, as there is no universal "cure" for the condition. The research aims to provide guidance for healthcare providers in selecting the most appropriate management strategies for each patient.

Open AccessPubMed

Y-splitting with recession of lateral rectus versus lateral rectus recession in correcting upshoot in Duane retraction syndrome.

Taiwan journal of ophthalmology20204 citations

Lin MC

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This research investigated surgical options for individuals with Duane Syndrome who experience 'upshoot,' an abnormal upward movement of the eye. The study compared the effectiveness of standard lateral rectus recession surgery against a technique that also includes 'Y-splitting' of the muscle. The goal was to understand which surgical method better corrects this specific eye movement, potentially improving outcomes for patients.

Open AccessPubMed

Management of Duane retraction syndrome with prismatic glasses.

Clinical ophthalmology (Auckland, N.Z.)20203 citations

Aygit ED, Kocamaz M, Inal A, Fazil K, Ocak OB, Akar S, Gokyigit B

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This research paper explored the use of prismatic glasses as a management strategy for Duane Retraction Syndrome (DRS). It aimed to report on how these specialized glasses might help address the eye movement and alignment challenges associated with DRS. Understanding the role of prismatic glasses can offer valuable insights for patients and parents considering various treatment approaches for Duane Syndrome.

Open AccessPubMed

Duane retraction syndrome: causes, effects and management strategies.

Clinical ophthalmology (Auckland, N.Z.)202051 citations

Kekunnaya R, Negalur M

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This paper describes Duane Syndrome as a congenital eye movement condition where the eye may retract or move abnormally when looking inward, stemming from a complex interplay of genetic, nerve, or mechanical factors. It emphasizes that DRS presents uniquely in each individual, with various types and eye alignment patterns. For management, particularly surgical planning, the study highlights the importance of an individualized approach based on the specific eye deviation, head position, and other symptoms, rather than solely relying on traditional classifications.

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Phenotypic analysis of mice carrying human-type MAFB p.Leu239Pro mutation.

Biochemical and biophysical research communications202010 citations

Kanai M, Jeon H, Ojima M, Nishino T, Usui T, Yadav MK, Kulathunga K, Morito N, Takahashi S, Hamada M

This research focused on a specific genetic change (MAFB p.Leu239Pro) known to cause a form of Duane Syndrome that can also affect the kidneys. Scientists created mice with this exact genetic change and found they had similar problems to mice completely missing the MafB gene. This tells us that this specific mutation severely impacts how the MafB gene works, which is a key step towards better understanding, diagnosing, and potentially developing treatments for people with this type of Duane Syndrome.

Open AccessPubMed

Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.

Case reports in ophthalmology20203 citations

Sedarous F, Chan TYB, Makar I

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This research describes a unique case of a congenital cranial dysinnervation disorder (CCDD), a group of conditions including Duane Syndrome, where nerves to the eye muscles don't develop correctly. They identified a new pattern of atypical eye movements, specifically alternating hypotropia with pseudoptosis, in a patient with bilateral dysinnervation. This finding expands our understanding of the diverse ways CCDDs can present, which is important for accurate diagnosis and management for patients and families living with these conditions.

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Duane retraction syndrome in a patient with abnormal head position.

Turk pediatri arsivi20201 citations

G&#xf6;k&#xe7;e &#x15e;, Albayram ZB, Turan G, Biler ED, Aydo&#x11f;du S

Duane Syndrome is a rare eye condition that affects how the eyes move, often causing limited movement and sometimes a pulling back of the eye. This study presented a case of a 1.5-year-old boy diagnosed with Duane Syndrome who had an abnormal head tilt. It highlights the importance for doctors to consider Duane Syndrome as a cause of misaligned eyes (strabismus), especially in young children who might use a head tilt to see better.

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Increased restriction from an accessory lateral rectus in exotropic Duane syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20204 citations

Macieira de Almeida Neves L, Curi I

Researchers found an extra eye muscle in one patient with exotropic Duane syndrome during surgery. This extra muscle was causing increased restriction, making it harder for the eye to move properly. This discovery is important because it shows that sometimes, an unusual or extra muscle can be a hidden reason for eye movement difficulties in Duane syndrome, emphasizing the need for surgeons to look carefully during operations.

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Facial Asymmetry in Unilateral Duane Retraction Syndrome.

Optometry and vision science : official publication of the American Academy of Optometry202011 citations

Akbari MR, Khorrami-Nejad M, Aghazadeh Amiri M, Akbarzadeh Baghban A, Khosravi B, Nourizad S

This research explored whether people with Duane Retraction Syndrome (DRS) have facial asymmetry, meaning one side of their face looks slightly different from the other. The study found that many individuals with DRS do have facial asymmetry, often on the side opposite to the direction they typically turn their head to compensate for eye movement limitations. This suggests that facial asymmetry is a common characteristic associated with DRS, likely due to the way the head is held. Knowing this can help patients and parents understand that this is a recognized feature of the syndrome.

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Transposition procedures in Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus202016 citations

Doyle JJ, Hunter DG

Duane Syndrome causes difficulty with horizontal eye movement and can lead to the eye pulling back when looking inward. This research paper reviews various surgical techniques, known as "transposition procedures," designed to improve eye alignment, reduce compensatory head turns, and minimize unwanted vertical eye movements. These procedures involve carefully repositioning certain eye muscles, sometimes with additional modifications, to help the eye move more effectively. Understanding these options is important for patients and parents considering surgery to improve the visual function and appearance associated with Duane Syndrome.

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Superior or inferior rectus transposition in esotropic Duane syndrome: a longitudinal analysis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus202015 citations

Sener EC, Yilmaz PT, Fatihoglu &#xd6;U

This research paper investigated the effectiveness of two surgical procedures, Superior Rectus Transposition (SRT) and Inferior Rectus Transposition (IRT), for individuals with esotropic Duane Syndrome, a condition where the eye turns inward. The study aimed to evaluate how well these muscle transposition surgeries helped improve eye alignment and movement over a period of time. Understanding the long-term outcomes of these treatments is important for patients and their families considering surgical options.

Open AccessPubMed

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.

Human molecular genetics202011 citations

Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC

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This study identified that a protein called ACKR3, which helps guide nerve development, plays a crucial role in preventing oculomotor synkinesis—where eyes move involuntarily with other actions. Researchers found that a faulty ACKR3 protein can lead to eye nerve misrouting, similar to what's seen in Duane Syndrome, where the eye muscles are incorrectly wired. This discovery provides new insights into the genetic causes of Duane Syndrome and related eye movement disorders.

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Botulinum toxin-A injection in esotropic Duane syndrome patients up to 2&#xa0;years of age.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20203 citations

Sener EC, Yilmaz PT, Fatihoglu &#xd6;U

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This research investigated Botulinum toxin-A (Botox) injections as the initial treatment for infants and toddlers (up to 2 years old) with esotropic Duane Syndrome, where the eye turns inward. The study concluded that Botox can be an effective primary treatment option for managing this condition in very young children. This offers a potential non-surgical approach for early intervention.

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Oculo-Auriculo-Fronto-Nasal Syndrome With Duane Retraction Syndrome and Dysplastic Bony Structure in the Midline of Nose.

The Journal of craniofacial surgery20202 citations

Ito R, Osawa M, Yamamoto Y, Murao N, Hayashi T, Maeda T, Ishikawa K, Oyama A, Funayama E

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This paper describes a rare case of a young man with Oculo-Auriculo-Fronto-Nasal Syndrome (OAFNS), a condition affecting facial and ear development, who also had Type 3 Duane Retraction Syndrome, meaning his right eye couldn't move outwards. Uniquely, he presented with an abnormal bony structure in his nose, a feature that helps distinguish OAFNS from similar syndromes. Surgeons successfully corrected this nasal issue, leading to a natural appearance and patient satisfaction, adding valuable insight into the complex presentation and management of these combined conditions.

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Protocadherin-Mediated Cell Repulsion Controls the Central Topography and Efferent Projections of the Abducens Nucleus.

Cell reports202021 citations

Asakawa K, Kawakami K

This research investigated the molecular mechanisms behind the formation of eye movement nerves, specifically the abducens nucleus, which is relevant to Duane Syndrome. The study identified that a protein called protocadherin is essential for organizing these nerve cells and guiding their connections to eye muscles. It suggests that issues with protocadherin, alongside specific genetic factors, could contribute to the abnormal nerve development seen in Duane Syndrome and similar congenital conditions.

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Auditory brainstem response.

Handbook of clinical neurology201949 citations

Eggermont JJ

This research paper discusses the Auditory Brainstem Response (ABR) test, which measures how quickly sound signals travel through the brainstem. The study found that individuals with Duane Syndrome often show increased ABR interwave latencies, meaning the brain's response to sound is slightly delayed. This finding suggests that Duane Syndrome can involve subtle changes in neural conduction within the brainstem, helping us better understand the neurological aspects of the condition.

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Chromosomal microarray analysis of patients with Duane retraction syndrome.

International ophthalmology20196 citations

Niyaz L, Tural S, Eski Yucel O, Can E, Ariturk N, Celik ZB, Tekcan E, Kara N

Duane Syndrome (DS) is known to have various genetic origins, including small changes in our chromosomes called copy number variations (CNVs). This study used advanced genetic testing, called chromosomal microarray, to thoroughly examine these CNVs, such as tiny missing or extra pieces of genetic material, in individuals with DS. Identifying these specific genetic changes helps improve our understanding of the diverse causes of Duane Syndrome, which can be important for genetic counseling and future research.

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Binocular Function in Subjects with Orthotropic Duane Retraction Syndrome.

Journal of binocular vision and ocular motility20192 citations

Marella BL, Moharana R, Kekunnaya R

This research investigated how people with Duane Syndrome use their eyes together. It found that while the ability to focus on objects (accommodation) is normal, individuals with Duane Syndrome often have difficulty with their eyes turning inward to look at close objects (convergence) and with the flexibility to keep images single (fusional vergence). Consequently, depth perception (stereopsis) is also often poor, which can impact daily activities requiring precise eye coordination.

Open AccessPubMed

Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome.

Turkish journal of ophthalmology20193 citations

Alt&#x131;nta&#x15f; AG, Arifo&#x11f;lu HB, K&#xf6;kl&#xfc; &#x15e;G

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This research investigated a modified Y-splitting procedure for Duane Retraction Syndrome (DRS), especially when eyes also show significant upshoot or downshoot. The procedure involves carefully dividing a specific eye muscle and sometimes adjusting other muscles to improve eye movement. The study found that this surgical approach effectively improved eye alignment and movement for patients with DRS.

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Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I.

Neuro-ophthalmology (Aeolus Press)20192 citations

Behdad B, Bagheri A, Tavakoli M, Pakravan M

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This case report details a 15-year-old girl with bilateral Duane Syndrome who also had a rare genetic condition called cystinosis and developed high pressure around her brain (pseudotumor cerebri). It highlights that Duane Syndrome can sometimes be associated with other complex medical conditions, and new symptoms like headaches or changes in vision should be promptly evaluated. This case underscores the importance of a comprehensive medical assessment for individuals with Duane Syndrome, especially when other health concerns arise.

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Anomalous Vertical Deviations in Attempted Abduction Occur in the Majority of Patients With Esotropic Duane Syndrome.

American journal of ophthalmology20196 citations

Rhiu S, Michalak S, Phanphruk W, Hunter DG

This study investigated a common but previously unrecognized eye movement in patients with esotropic Duane Syndrome (where the eye turns inward). Researchers found that when these individuals attempt to move their eye outwards, it frequently also moves downwards. This new understanding helps explain some of the complex eye movements seen in Duane Syndrome, potentially leading to more precise diagnosis and tailored management strategies for patients.

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Adjustable Posterior Fixation Suture Technique in Adjustable Superior Rectus Transposition.

Journal of binocular vision and ocular motility20198 citations

Velez FG, Pineles SL

For individuals with Duane Syndrome, a surgical procedure called superior rectus transposition helps improve eye movement. A common challenge with this surgery has been the lack of adjustability. This study introduces a novel technique using an adjustable posterior fixation suture, allowing surgeons to fine-tune the eye muscle position, potentially leading to more precise and effective outcomes for patients.

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Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly.

Middle East African journal of ophthalmology20195 citations

Alshamrani AA, Alghulaydhawi FA, Al Shamrani M

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This research describes the first reported case of a child having both Marcus Gunn jaw-winking syndrome (where an eyelid moves with jaw movement) and Morning Glory disc anomaly (a specific defect of the optic nerve). The child also presented with other vision problems in the affected eye. This finding is significant for individuals with Duane Syndrome because both Marcus Gunn jaw-winking syndrome and Morning Glory disc anomaly have previously been linked to Duane Syndrome, suggesting a potential shared developmental pathway among these complex eye conditions.

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Diffusion Tensor Imaging of the Lateral Rectus Muscle in Duane Retraction Syndrome.

Journal of computer assisted tomography20194 citations

Abdel Razek AAK, Helmy EM, Maher H, Kasem MA

This research utilized an advanced MRI technique called Diffusion Tensor Imaging (DTI) to examine the lateral rectus muscle in individuals with Duane Retraction Syndrome. The study aimed to identify subtle, microscopic abnormalities within these muscles that contribute to the condition's characteristics. Understanding these microstructural changes through DTI could potentially lead to improved diagnostic insights or more targeted treatment approaches for Duane Syndrome.

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A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.

Kidney international201967 citations

Sato Y, Tsukaguchi H, Morita H, Higasa K, Tran MTN, Hamada M, Usui T, Morito N, Horita S, Hayashi T, Takagi J, Yamaguchi I, Nguyen HT, Harada M, Inui K, Maruta Y, Inoue Y, Koiwa F, Sato H, Matsuda F, Ayabe S, Mizuno S, Sugiyama F, Takahashi S, Yoshimura A

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This study investigated families where individuals had both Duane Syndrome, an eye movement disorder, and a kidney condition called Focal Segmental Glomerulosclerosis (FSGS). Researchers identified a specific genetic change in the MAFB gene that appears to cause both conditions. This discovery suggests that the MAFB gene plays a crucial role in the development of the eyes, kidneys, and potentially the inner ear, offering new insights into why these seemingly unrelated issues can occur together.

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Management of Duane retraction syndrome: A simplified approach.

Indian journal of ophthalmology201920 citations

Gaur N, Sharma P

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Duane Syndrome is a congenital condition where eye muscles don't work together correctly, causing limited eye movement, retraction, and sometimes an abnormal head posture. This paper highlights that diagnosis is primarily clinical, with genetics playing an increasing role, and emphasizes personalized treatment plans. Newer surgical techniques have significantly improved outcomes, achieving better eye alignment and expanding binocular visual fields.

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Surgical outcome of superior rectus transposition in esotropic Duane syndrome and abducens nerve palsy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201922 citations

Agarwal R, Sharma M, Saxena R, Sharma P

This research evaluated the effectiveness of a surgical procedure called superior rectus transposition (SRT) for individuals with esotropic Duane syndrome or abducens nerve palsy, conditions where an eye turns inward. The study aimed to determine how well SRT helps to improve eye alignment and reduce the inward turn. Understanding these outcomes is crucial for patients and parents considering surgical options to manage these conditions.

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Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.

eLife2019336 citations

Donovan KA, An J, Nowak RP, Yuan JC, Fink EC, Berry BC, Ebert BL, Fischer ES

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This study reveals that the drug thalidomide caused severe birth defects by inducing the degradation of SALL4, a crucial developmental transcription factor. Mutations in SALL4 are known to cause conditions like Duane Radial Ray syndrome, which presents with similar features such as limb, ear, and eye defects. This research provides a molecular explanation for thalidomide's teratogenicity and offers valuable insights into the genetic basis of SALL4-related developmental disorders.

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Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach.

Seminars in ophthalmology20194 citations

Gunduz A, Ozsoy E, Ulucan PB

This research explored the unique eye movement patterns in individuals with Duane Retraction Syndrome (DRS) and evaluated various surgical approaches. The study found that tailoring surgical interventions to each patient's specific eye characteristics resulted in more effective outcomes. This highlights the importance of a personalized treatment plan for managing Duane Syndrome.

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Adhesion after Y-split procedure can affect its mechanism for treating overshoots in Duane's syndrome.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie20192 citations

Choi Y, Jang S, Choi SY, Kim SH, Suh YW

This study investigated the Y-split surgical procedure, which is sometimes used to help correct eye movement issues like overshoots in Duane Syndrome. Researchers found that after this surgery, scar tissue (adhesion) can form, potentially changing how the eye muscles are positioned. This adhesion might reduce the effectiveness of the Y-split procedure in improving eye movements, suggesting a potential factor for surgeons to consider.

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Lateral rectus muscle recession for intermittent exotropia with anomalous head position in type 1 Duane's retraction syndrome.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie20184 citations

Lee JY, Park KA, Oh SY

This study explored a surgical approach for individuals with type 1 Duane Syndrome who experience intermittent exotropia (an eye turning outward) and an anomalous head position (head tilt). Researchers performed a lateral rectus (LR) muscle recession, but with a reduced correction, to address these issues. The goal was to effectively correct the eye deviation and head tilt while minimizing the risk of common surgical complications like a secondary abduction deficit (difficulty moving the eye outward) or late overcorrection.

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Anomalous Lateral Rectus Muscle Band in a Case of Duane Retraction Syndrome.

Strabismus20185 citations

Ganesh S, Tibrewal S, Yadav A, Sethi S

This research describes a patient with Duane Syndrome where an unusual band of tissue was discovered beneath the lateral rectus eye muscle. While rare, such anomalous structures can contribute to the unique eye movement limitations seen in Duane Syndrome. Identifying these specific anomalies is important because it helps surgeons plan the most effective treatment to improve eye alignment and movement.

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Bilateral lateral rectus recession in exotropic Duane syndrome with downshoot.

Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH20182 citations

Gurung CM, Ganesh S, Shrestha P

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This study explored a specific eye muscle surgery, called bilateral lateral rectus recession, for people with Duane Syndrome where the eye turns outward and sometimes dips down. Researchers found that significantly weakening these eye muscles improved several key symptoms. These improvements included making the eye look straighter, reducing abnormal head postures, lessening the eye pulling back into the socket, decreasing the narrowing of the eye opening, and correcting the downward eye movement. This suggests that this surgical approach can offer substantial relief and functional improvement for these complex symptoms.

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Atypical Presentation of Giant Aneurysm in Pediatric Patient with Duane Syndrome.

World neurosurgery20181 citations

Kuo CH, McGrath LB, Carnevale JA, Marupudi NI, Ojemann JG, Ellenbogen RG, Wang AC

Duane syndrome is a congenital eye movement disorder caused by a malformation of a specific nerve in the brain. Researchers suggest that the developmental conditions leading to Duane syndrome might also predispose individuals to certain vascular anomalies. This paper documents a very rare instance of a pediatric patient with Duane syndrome presenting with a giant aneurysm, a large, abnormal bulge in a blood vessel. This finding is important as it expands our understanding of potential, albeit extremely uncommon, related health considerations for individuals with Duane syndrome.

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Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Medicine201826 citations

Pavone P, Cho SY, Pratic&#xf2; AD, Falsaperla R, Ruggieri M, Jin DK

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This research paper reviewed various causes of childhood ptosis (droopy eyelid), including congenital conditions like Duane Syndrome. It specifically highlighted a case of a patient with Duane Syndrome who presented not only with ptosis but also with congenital skin and hair anomalies. This finding suggests that Duane Syndrome can sometimes be part of a broader set of congenital issues, emphasizing the need for a thorough medical assessment.

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CHN1 gene mutation analysis in patients with Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20184 citations

Biler ED, Ilim O, Onay H, Uretmen O

This research investigated whether mutations in the CHN1 gene are associated with Duane Syndrome. Researchers specifically examined patients with isolated Duane Syndrome, particularly those with a family history, involvement in both eyes, or other health conditions. Understanding these potential genetic links can help us better understand the causes of Duane Syndrome and may inform future diagnostic approaches.

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Augmented superior rectus transposition procedure in Duane retraction syndrome compared with sixth nerve palsy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie201820 citations

Akbari M, Shomali S, Mirmohammadsadeghi A, Fard MA

This study investigated a specific eye surgery, called augmented superior rectus transposition, for individuals with Duane Syndrome. Researchers compared a modified version of this surgery (without an additional muscle adjustment) to see its effectiveness in Duane Syndrome patients versus those with a different nerve problem affecting eye movement. The goal was to understand the outcomes of this particular surgical approach for both conditions, potentially guiding future treatment decisions.

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Complications of augmented superior rectus transposition in Duane syndrome.

Archivos de la Sociedad Espanola de Oftalmologia20186 citations

Merino P, G&#xf3;mez de Lia&#xf1;o P, Ah Kim Y

This paper describes a patient with Duane Syndrome who underwent an augmented superior rectus transposition surgery. Following the procedure, the patient experienced complications including vertical eye misalignment, eye twisting, and double vision. These symptoms were successfully resolved by removing a specific 'Foster suture' used for augmentation and adjusting the superior rectus muscle. This case highlights a potential complication associated with the augmented technique in this type of surgery, which is important for patients and their families to understand when considering treatment options.

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Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog.

Veterinary ophthalmology20181 citations

Mari L, Blacklock BT, Stavinohova R, De Risio L

Researchers studied a French Bulldog with eye symptoms very similar to human Duane Syndrome, including an eye that turned outward and pulled back when trying to look inward. After thorough tests ruled out other causes, they diagnosed a condition resembling Duane Syndrome, confirming that this specific type of eye movement disorder can occur in animals. This case is important because it suggests the underlying nerve issue in Duane Syndrome might be present across different species, potentially offering new ways to understand the condition.

Open AccessPubMed

Type 4 Duane syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201810 citations

Schliesser JA, Sprunger DT, Helveston EM

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This study investigated whether a specific eye movement disorder, known as synergistic divergence, should be classified as a form of Duane Syndrome. The researchers identified cases where the characteristics of synergistic divergence strongly suggest it is indeed a distinct subtype, proposing it as 'Type 4 Duane syndrome.' This finding is important because it helps doctors more accurately diagnose and understand the full spectrum of Duane Syndrome, potentially leading to more tailored care for patients.

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[Sensory and motor clinical presentation of congenital retraction syndromes: Stilling-Duane and Brown syndrome].

Journal francais d'ophtalmologie20184 citations

Promelle V, Fortier M, Milazzo S

This research focused on patients with Duane Syndrome and Brown syndrome, rare conditions where eye muscles are stiff, causing misaligned eyes. The study aimed to thoroughly describe the specific ways these conditions affect eye movement and vision. This information is important for doctors to better understand, diagnose, and manage Duane Syndrome, ultimately improving care for affected individuals.

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Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20182 citations

Khan AO, Shinwari JM, Al-Tassan NA

This research looked into a specific type of Duane Syndrome where the eyes turn outwards in an unusual way, called exotropic Duane syndrome with synergistic divergence. Previous studies suggested a gene called COL25A1 might be the cause for this particular form. However, after testing several individuals with this condition, the researchers found that mutations in the COL25A1 gene were not responsible for their Duane Syndrome.

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Duane syndrome with&#xa0;prominent oculo-auricular phenomenon.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20181 citations

Gilbert AL, Hunter DG

This study highlights an unusual symptom in a patient with Duane syndrome: a noticeable tugging sensation and movement of the ear on the same side as the affected eye when looking sideways. This 'oculo-auricular phenomenon' suggests that the nerve misconnections in Duane syndrome can sometimes affect areas beyond just the eye muscles. While eye surgery improved the patient's discomfort, the ear movement didn't fully disappear, indicating it's a unique aspect of their condition that patients and doctors should be aware of.

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A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Human molecular genetics201822 citations

Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, N&#xfc;rnberg G, Thoenes M, Becker J, Altm&#xfc;ller J, Volk AE, Kubisch C, Heller R

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This study discovered a new genetic mutation in the TUBB6 gene that causes a specific set of symptoms, including congenital facial weakness, drooping eyelids (ptosis), and difficulties with speech and swallowing. While this particular mutation does not cause Duane Syndrome, it is significant because it expands our understanding of the types of gene changes that can lead to related conditions affecting nerve and muscle development. This research helps us better understand the broader group of congenital disorders that includes Duane Syndrome, potentially leading to new insights for diagnosis and future treatments.

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The Efficacy of Bilateral Lateral Rectus Recession According to Secondary Deviation Measurements in Unilateral Exotropic Duane Retraction Syndrome.

Journal of pediatric ophthalmology and strabismus20187 citations

Mezad-Koursh D, Leshno A, Klein A, Stolovich C

This research explored a specific surgical technique for people with Duane Syndrome where one eye turns outward, often causing them to turn their head to see better. The study evaluated adjusting the outer muscles of both eyes, even if only one eye has Duane Syndrome, using precise measurements. The findings suggest this surgery can effectively improve eye alignment and reduce the need to turn the head, potentially improving vision and comfort for patients.

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The genetics of nonsyndromic bilateral Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20182 citations

Abu-Amero KK, Khan AO, Oystreck DT, Kondkar AA, Bosley TM

This research explored the genetic origins of bilateral Duane Syndrome, specifically investigating the role of single gene mutations and larger DNA variations. The study revealed that these genetic changes are significant contributors to the development of the condition. Understanding these underlying genetic causes is crucial for improving diagnosis, providing accurate genetic counseling, and potentially guiding future research into treatments for individuals and families affected by Duane Syndrome.

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Bilateral Superior Rectus Transposition With Bilateral Medial Rectus Recession for M&#xf6;bius Syndrome.

Journal of pediatric ophthalmology and strabismus20176 citations

Zheng Y, Donahue SP

A surgical procedure involving bilateral superior rectus transposition and bilateral medial rectus recession has been a successful treatment option for individuals with Duane Syndrome to improve eye movement. This paper describes the first reported use of this specific surgery for a child with Möbius syndrome, who also experienced significant eye movement limitations. The treatment led to marked improvement in the child's ability to move their eyes, suggesting its broad potential for similar complex strabismus cases.

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Congenital sixth nerve palsy with associated anomalies.

Indian journal of ophthalmology20174 citations

Kasturi N

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This research paper discusses that while difficulty moving an eye outwards from birth (congenital abduction deficit) is most often Duane Syndrome, true congenital sixth nerve palsy is very rare. The study reported two cases of infants with this rarer nerve problem, which was also linked to other health issues. It emphasizes that doctors should use neuroimaging (brain scans) to accurately diagnose the cause of limited eye movement in infants, especially when other anomalies are present, to ensure proper management.

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Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.

Human molecular genetics201760 citations

Whitman MC, Engle EC

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This study investigated Duane Syndrome, a condition where one or both eyes cannot move outwards due to issues with nerve development. Researchers identified specific genetic factors, such as mutations in MAFB or CHN1, that disrupt the formation and guidance of nerves controlling eye movement. These findings explain why the abducens nerve might be missing and how other nerves misconnect, deepening our understanding of the underlying causes of Duane Syndrome.

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Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Ophthalmic genetics20175 citations

Bosley TM, Salih MA, Alkhalidi H, Oystreck DT, El Khashab HY, Kondkar AA, Abu-Amero KK

This paper describes a unique case of a young boy diagnosed with both bilateral Duane Retraction Syndrome (DRS) and Duchenne Muscular Dystrophy (DMD). It details his specific clinical features, including other associated medical issues. This report helps doctors and families understand how these two distinct conditions can sometimes occur together, offering important information for diagnosis and care.

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Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Korean journal of ophthalmology : KJO201736 citations

Kim JH, Hwang JM

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This research highlights how advanced MRI scans can create very detailed pictures of the cranial nerves that control eye movement. For patients and parents dealing with Duane Syndrome, this means doctors can better visualize the specific nerve connections that are developed differently. This improved understanding helps confirm the diagnosis and explains the unique eye movements seen in Duane Syndrome.

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Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.

American journal of medical genetics. Part A201719 citations

Marble M, Guillen Sacoto MJ, Chikarmane R, Gargiulo D, Juusola J

Researchers studied a patient who had Duane Syndrome along with a skin condition called aplasia cutis congenita and hip problems. They discovered a new genetic change in a gene called UBA2, which is involved in a crucial body process. This suggests that issues with this gene and its pathway could be a new reason why some individuals develop Duane Syndrome alongside other specific health conditions, potentially leading to better understanding or diagnosis.

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Mutant &#x3b1;2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.

The Journal of clinical investigation201718 citations

Nugent AA, Park JG, Wei Y, Tenney AP, Gilette NM, DeLisle MM, Chan WM, Cheng L, Engle EC

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This study used a special mouse model to investigate Duane Syndrome, a condition affecting eye movement. Researchers found that a specific gene mutation (in α2-chimaerin) causes the nerve responsible for outward eye movement (abducens nerve) to stop growing too early, leading to other nerves trying to control the muscle. This discovery highlights a specific signaling pathway involved, offering new insights into why Duane Syndrome occurs and potentially guiding future research into treatments.

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Congenital inverse Duane's retraction syndrome: A rare presentation.

Indian journal of ophthalmology20173 citations

Agarkar S, Kaduskar A

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This paper describes a very rare case of "inverse Duane Syndrome" in a 12-year-old girl, which she had since birth. Her eye turned inward and had difficulty moving outward, sometimes pulling back into the socket. Reporting such rare cases helps doctors better understand the many different ways Duane Syndrome can appear, improving diagnosis and care for patients.

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Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report.

BMC ophthalmology20171 citations

Kim JH, Hwang JM

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This research describes a unique case of a patient with Type 1 Duane Syndrome who achieved full outward eye movement after surgery, which is an exceptional result. Typically, surgery for this condition, even bilateral medial rectus recession, only partially improves the eye's ability to move outwards, especially when the abducens nerve is absent. This case offers a rare example of a highly successful surgical outcome, suggesting that significant functional improvement is possible for some individuals with Duane Syndrome.

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Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve.

Indian journal of ophthalmology20177 citations

Gupta C, Sharma P, Saxena R, Garg A, Sharma S

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This research used detailed MRI scans to look closely at the nerves and muscles controlling eye movement in individuals with Duane Syndrome. The goal was to see how specific findings on these scans connect to the unique ways their eyes move. This helps doctors and researchers better understand the root causes of Duane Syndrome.

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A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India.

Journal of pediatric ophthalmology and strabismus20177 citations

Bhate M, Sachdeva V, Kekunnaya R

This study found that many patients with Duane Syndrome also have exotropia, meaning their eyes tend to turn outwards. This suggests that exotropia is a common eye alignment issue for people with Duane Syndrome. Understanding this high prevalence helps eye doctors better identify and manage the specific vision challenges faced by patients with this condition.

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Abducens Nerve in Patients with Type 3 Duane's Retraction Syndrome.

PloS one201713 citations

Yang HK, Kim JH, Hwang JM

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A previous study examined the abducens nerve, which is crucial for outward eye movement, in a small group of patients with Type 3 Duane's Retraction Syndrome using MRI scans. They observed that this nerve was absent in most of the eyes studied (60%) but present in some (40%). This finding suggests that the underlying cause of eye movement limitations in Type 3 DRS can vary significantly among individuals.

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Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion20173 citations

Chac&#xf3;n-Camacho &#xd3;F, Cabral-Mac&#xed;as J, Ayala-Ram&#xed;rez R, Arteaga-V&#xe1;zquez J, Svyryd Y, Helmes K, P&#xe9;rez-Hern&#xe1;ndez N, Mutchinick OM, Zenteno JC

Okihiro syndrome is a genetic condition where individuals have Duane Syndrome along with specific hand and arm differences. Research has shown that changes in the SALL4 gene are responsible for Okihiro syndrome in most cases. This study specifically investigated Mexican patients with Okihiro syndrome, detailing their symptoms and checking for these SALL4 gene changes, which helps improve diagnosis and care for affected families.

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Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

American journal of human genetics201775 citations

Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC

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This research identified specific changes in the MAFB gene as a cause of Duane Syndrome, sometimes also linked to deafness. The study confirmed that the primary issue is the abducens nerve failing to fully connect with the lateral rectus muscle during development. This incomplete connection then causes another nerve to aberrantly take over, explaining the characteristic eye movements. Understanding this genetic and developmental root helps us better comprehend Duane Syndrome and may open doors for future research into treatments.

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A simple and novel grading method for retraction and overshoot in Duane retraction syndrome.

The British journal of ophthalmology201718 citations

Kekunnaya R, Moharana R, Tibrewal S, Chhablani PP, Sachdeva V

For individuals with Duane Syndrome, significant eye retraction (pulling back) and overshoot (jumping) are common. Until now, there hasn't been a clear, objective way to measure these movements. Researchers have developed a new, simple grading method that will help doctors consistently measure these eye movements. This will improve how treatment decisions, especially surgery, are made and help predict the best outcomes for patients.

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Y-split recession vs isolated recession of the lateral rectus muscle in the treatment of vertical shooting in exotropic Duane retraction syndrome.

European journal of ophthalmology201718 citations

Farid MF

This research aimed to compare two surgical methods for treating vertical shooting, a common eye movement issue in exotropic Duane Retraction Syndrome. The study sought to determine whether a Y-split recession or an isolated recession of the lateral rectus muscle offered superior outcomes. Understanding these differences can help guide doctors in choosing the most effective surgery to improve eye alignment and movement for patients.

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Audiologic and otologic phenotype in children with Duane's Retraction Syndrome: A rare ophthalmologic disorder.

International journal of pediatric otorhinolaryngology201712 citations

Weir FW, Kreicher KL, Hatch JL, Nguyen SA, Meyer TA

This study investigated the connection between Duane Syndrome and hearing impairment. Researchers aimed to determine how often hearing problems occur in patients with Duane Syndrome, what specific types of hearing loss are present, and their severity. Understanding these factors, alongside other patient information, helps healthcare providers offer more complete care and anticipate potential co-occurring conditions for individuals with Duane Syndrome.

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Multiple Ocular and Systemic Disorders in Association with Bilateral Duane's Retraction Syndrome.

Middle East African journal of ophthalmology20172 citations

Zare MA, Akbari MR, Kiarudi MY, Mehrjardi HZ

Duane Syndrome, a condition affecting eye movement due to nerve issues, is known to be frequently associated with other birth defects. This research describes a patient with Duane Syndrome in both eyes who also had several other conditions, including heart problems, hearing loss, and eye abnormalities. This case emphasizes the importance of comprehensive evaluation for other health issues in individuals diagnosed with Duane Syndrome.

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[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics20171 citations

Cheng Y, Zhao ST, Guo L, Deng M, Zhou Q, Song YZ

This research describes a young boy diagnosed with both Duane Syndrome and Alagille syndrome, a genetic disorder affecting multiple organs. The study identified a previously unknown mutation in the JAG1 gene as the cause of his Alagille syndrome. This finding is important for patients with Duane Syndrome because it suggests that in some cases, Duane Syndrome might occur alongside other genetic conditions like Alagille syndrome, prompting doctors to consider broader genetic testing or screening for associated conditions.

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Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

European journal of medical genetics20168 citations

Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC

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This study identified a new genetic variant in the SALL4 gene, linked to Okihiro syndrome, a condition often associated with Duane Syndrome and limb abnormalities. Interestingly, while the affected family members in this research showed a range of limb and other physical differences, none of them presented with Duane Syndrome. This highlights the significant variability in how SALL4 gene changes can manifest, even when a condition typically includes Duane Syndrome.

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Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Annales d'endocrinologie20165 citations

Jedraszak G, Braun K, Receveur A, Decamp M, Andrieux J, Rabbind Singh A, Copin H, Bremond-Gignac D, Mathieu M, Rochette J, Morin G

This study describes two brothers with Duane Syndrome who also experienced growth hormone deficiency and other physical differences, including a specific brain malformation. Researchers discovered that these brothers had a genetic condition called Cat-Eye syndrome, involving an extra piece of chromosome 22, which led to their growth issues and other symptoms, including Duane Syndrome. This finding suggests that individuals with Duane Syndrome, especially if they have growth problems or other unusual features, might benefit from genetic testing to identify underlying conditions. It highlights the importance of looking at the whole family's health history.

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Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201624 citations

Khan AO, Al-Mesfer S

This research explored the genetic causes of certain eye conditions, including Duane Syndrome and congenital droopy eyelids (ptosis). It found that specific genetic changes, called recessive COL25A1 mutations, were present in four children who had either isolated droopy eyelids or Duane Syndrome with a particular eye movement pattern. This discovery is important because it identifies a new genetic cause for these conditions, which can help improve understanding and future diagnosis. More study is needed to see how often this gene mutation is responsible for these eye problems.

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Bilateral superior rectus transposition for congenital exotropia associated with anomalous medial rectus muscles.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus20163 citations

Kodsi SR

This study describes a new surgical approach for a child with congenital exotropia, a condition where both eyes turn outwards, caused by unusual (anomalous) medial rectus muscles. While similar muscle transposition surgeries are often used for eyes turning inwards (esotropia) in conditions like Duane Syndrome, this case successfully adapted the technique. By moving the superior rectus muscles to a new position and weakening the lateral rectus muscles, doctors were able to achieve good eye alignment for the child.

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Bilateral type III Duane syndrome: a case report.

European journal of ophthalmology20161 citations

Garc&#xed;a E, Fern&#xe1;ndez De Ar&#xe9;valo BT, Ar&#xe9;valo EM, Mhanna H, Alija M

Duane syndrome is a congenital eye movement disorder, typically affecting one eye, though it can be bilateral in about 20% of cases. This case report describes a rare presentation of bilateral Type III Duane syndrome, characterized by limitations in both outward (abduction) and inward (adduction) eye movements. Understanding such variations is crucial for accurate diagnosis and management for patients and their families.

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Duane syndrome: Clinical features and surgical management.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie201623 citations

Kalevar A, Ong Tone S, Flanders M

This study aimed to better understand the different ways Duane Syndrome affects people's eyes and to see how well surgery works for those who choose it. Researchers gathered more information about the common features of Duane Syndrome and found that surgery can be an effective option to improve eye alignment and movement. This helps patients and parents understand the condition better and consider all available treatment paths.

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Plication augmentation of the modified Hummelsheim procedure for treatment of large-angle esotropia due to abducens nerve palsy and type 1 Duane syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201617 citations

Kinori M, Miller KE, Cochran M, Patil PA, El Sahn M, Khayali S, Robbins SL, Hertle RW, Granet DB

This research explores a new surgical technique for individuals with Type 1 Duane Syndrome who experience significant inward eye turning (esotropia) and difficulty moving the eye outward. The study describes a modified Hummelsheim procedure, enhanced with 'plication augmentation,' as a potential treatment. This approach aims to improve eye alignment and outward movement, offering another option for managing these challenging symptoms.

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Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

Ophthalmic genetics20165 citations

Abu-Amero KK, Kondkar A, Hellani AM, Oystreck DT, Khan AO, Bosley TM

This study investigated a patient with unilateral Duane Syndrome and mild physical differences, identifying a specific mutation in a nicotinic receptor gene. This finding suggests that for some individuals, Duane Syndrome may have a genetic basis linked to changes in particular genes, especially when accompanied by other subtle physical traits. Understanding these genetic connections is crucial as it helps researchers better understand the condition's causes and may inform future diagnostic approaches or genetic counseling for affected families.

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Comparison of augmented superior rectus transposition with medial rectus recession for surgical management of esotropic Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201631 citations

Tibrewal S, Sachdeva V, Ali MH, Kekunnaya R

This research compared different surgical methods for Duane Syndrome where the eye turns inward. The study looked at a newer surgery that repositions an eye muscle, sometimes combined with a common muscle-weakening procedure, against just the muscle-weakening procedure alone. The goal was to find out which surgery best helps straighten the eyes and improve their ability to move outward. This helps doctors decide the most effective treatment for patients.

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Duane retraction syndrome in a Nigerian child.

The Pan African medical journal20152 citations

Olawoye OO, Olusanya BA, Baiyeroju AM

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This paper describes a 4-year-old Nigerian girl diagnosed with Duane Syndrome, presenting with a squint and characteristic eye movement limitations and eyelid changes. The case highlights that Duane Syndrome occurs in diverse populations, including West Africa. For patients and parents, this emphasizes the importance of a thorough eye examination to ensure an accurate diagnosis and appropriate management, regardless of geographic location.

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Does infantile abduction deficit indicate duane retraction syndrome until disproven?

Journal of child neurology20152 citations

Kim JH, Hwang JM

When an infant struggles to move their eye outwards, it's typically assumed to be Duane Syndrome. This research highlights a very rare instance where a special MRI revealed a different, rare condition involving a weak eye muscle but a healthy nerve. This finding emphasizes that high-resolution MRI is a crucial tool for doctors to accurately differentiate between Duane Syndrome and other rare causes of eye movement limitations in infants, guiding more precise treatment.

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The congenital cranial dysinnervation disorders.

Archives of disease in childhood201540 citations

Gutowski NJ, Chilton JK

This research paper explains that Duane Syndrome is a congenital condition, meaning you're born with it, and it's caused by how the nerves that control eye movement develop. It's part of a group of related disorders where the brain's signals to the eye muscles are affected. Scientists are discovering specific genes linked to these conditions, which helps us better understand the underlying causes and how the brain and nerves form. This improved understanding is crucial for future research and potential treatments.

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Surgical management of strabismus in Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201536 citations

Kekunnaya R, Kraft S, Rao VB, Velez FG, Sachdeva V, Hunter DG

This paper highlights that while Duane Syndrome is common, correcting eye misalignment (strabismus) with surgery can be complex. This is because the eyes have limited movement, muscles can be tight in different ways, and the condition varies from person to person. A group of experienced eye surgeons shared their expert advice and practical strategies to help manage these challenging surgeries for patients with Duane Syndrome.

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Cranial nerve palsies in childhood.

Eye (London, England)201535 citations

Lyons CJ, Godoy F, ALQahtani E

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This research explains that Duane Syndrome is a congenital condition, meaning it's present from birth. It suggests that it occurs due to an early repair process of the sixth cranial nerve, leading to the third cranial nerve incorrectly controlling the lateral rectus muscle. This abnormal wiring causes the eye to pull back and the muscles to co-contract when looking inward, which helps us understand the condition better.

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Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome.

Indian journal of ophthalmology201529 citations

Sharma P, Tomer R, Menon V, Saxena R, Sharma A

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This research investigated a specific surgical approach for exotropic Duane retraction syndrome (Exo-DRS), a form of Duane Syndrome where the affected eye turns outward. The study evaluated the effectiveness of combining lateral rectus periosteal fixation (anchoring the outer eye muscle) with partial vertical rectus transpositioning (partially repositioning other eye muscles). The aim was to determine if this particular technique could better correct the eye's alignment and movement, potentially offering an improved treatment option for patients.

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Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.

Ophthalmic genetics20159 citations

Abu-Amero KK, Kondkar AA, Al Otaibi A, Alorainy IA, Khan AO, Hellani AM, Oystreck DT, Bosley TM

This research looked at a patient with Duane Syndrome who also had some other minor physical and brain differences. They found a specific genetic change: an extra piece on chromosome 19. This discovery helps us understand that some forms of Duane Syndrome, especially when other features are present, might have a genetic cause, which could improve future diagnosis and support for families.

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Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome.

Ophthalmic genetics20155 citations

Abu-Amero KK, Kondkar AA, Oystreck DT, Khan AO, Bosley TM

Duane Retraction Syndrome (DRS) is a common eye movement disorder. This research discovered that some individuals with DRS, particularly those with other associated health conditions (syndromic DRS), have small missing sections on chromosomes 12 and 22. Identifying these specific genetic changes helps provide a clearer diagnosis and improves our understanding of how DRS develops, which is valuable for affected patients and their families.

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Assessment of torsion after superior rectus transposition with or without medial rectus recession for Duane syndrome and abducens nerve palsy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201544 citations

Velez FG, Oltra E, Isenberg SJ, Pineles SL

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A common surgical procedure for Duane Syndrome, called superior rectus transposition, helps improve eye alignment. While previous studies mainly focused on how straight the eyes became, there's been a concern that this surgery might cause the eye to rotate or twist. This research specifically aimed to measure and understand if such twisting occurs after the surgery, by carefully checking patients before and after their operation.

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[Medial rectus tendon elongation with bovine pericardium for type 1 Duane's retraction syndrome].

Klinische Monatsblatter fur Augenheilkunde20157 citations

Hedergott AM, Fricke J, Neugebauer A

Patients with Type 1 Duane Syndrome often turn their head to see straight, even after standard eye muscle surgery. This study investigated a surgical technique that elongates the medial rectus muscle using a special patch, finding it can correct larger eye turns more effectively. This approach helps reduce head turns and improves eye alignment, offering a better outcome for some patients.

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Strabismus genetics across a spectrum of eye misalignment disorders.

Clinical genetics201546 citations

Ye XC, Pegado V, Patel MS, Wasserman WW

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This research paper reviews current knowledge about the genetic causes of strabismus, including Duane Syndrome. It highlights that relatives of individuals with Duane Syndrome often have other forms of eye misalignment, suggesting a genetic connection. Understanding these genes is crucial because it could lead to earlier diagnosis, more effective treatments, and potentially reduce the need for surgery for conditions like Duane Syndrome.

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The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201519 citations

Khan AO, Shaheen R, Alkuraya FS

This research investigates whether mutations in the ECEL1 gene, previously linked to muscle development issues, can also cause certain eye movement disorders similar to Duane Syndrome. The study details the specific eye findings in several affected siblings from one family and reviews other reported cases. By better defining this connection, researchers aim to improve our understanding of the genetic causes of these conditions, which could lead to better diagnosis and care for patients.

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Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201512 citations

Khan AO, Abu-Amero K

This study reports on a young girl with eyes that turned inward and couldn't move outward, who was diagnosed with a genetic condition called Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). Her older brother, who had been diagnosed with Duane Syndrome, was then found to have the same HGPPS condition. This research shows that HGPPS can sometimes be mistaken for Duane Syndrome, emphasizing the importance of thorough evaluation and considering genetic testing, especially when there's a family history, to ensure an accurate diagnosis.

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Duane's syndrome: surgical outcome and non ophthalmologic associations.

Journal of Ayub Medical College, Abbottabad : JAMC20152 citations

Sarfraz S, Zafar SN, Khan A

Duane Syndrome is a common eye movement disorder present from birth. This research from a specialized eye hospital investigated the different types of Duane Syndrome and how treatments, including surgery, worked out for patients. It also looked for other health conditions often seen with Duane Syndrome, aiming to provide a clearer picture for patients and parents about managing the condition and understanding potential related issues.

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Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3.

Eye (London, England)20146 citations

Snir M, Dotan A, Friling R, Ron-Kella Y, Goldenberg-Cohen N, Stiebel-Kalish H

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This study explored a surgical option for people with Duane Syndrome type 3, where one eye turns outward. Researchers investigated whether weakening a muscle in the *opposite* eye could improve how the eyes move, how they work together, and reduce the need to tilt the head. The aim was to understand if this specific surgery could help improve daily life and vision for patients with this condition.

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Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.

International journal of pediatric otorhinolaryngology20149 citations

Hernando M, Urbasos M, Amarillo VE, Herrera MT, Garc&#xed;a-Peces V, Plaza G

This research describes a young child diagnosed with Duane Syndrome, who also presented with congenital hearing loss and a rare malformation of a major blood vessel in the neck. This case illustrates that Duane Syndrome can sometimes be part of a broader condition called Wildervanck syndrome, which affects multiple body systems. It emphasizes the importance of a comprehensive medical evaluation for individuals with Duane Syndrome to identify any associated conditions.

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Magnetic resonance imaging findings of the abducens nerves in type 1 Duane's retraction syndrome.

Seminars in ophthalmology20148 citations

Tuzcu EA, Bayarogullari H, Atci N, Basarslan F, Coskun M, Yilmaz C, Ilhan N, Daglioglu M

This research utilized advanced MRI scans to closely examine the abducens nerves and the muscles that move the eye in individuals with Type 1 Duane Syndrome. The aim was to gain a more detailed understanding of these structures, which could help clarify the underlying characteristics of the condition. This detailed imaging can contribute to a better overall understanding and potentially future approaches to managing Duane Syndrome.

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Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia.

Oman journal of ophthalmology20142 citations

Gupta M, Gupta OP, Vohra V

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This research describes a young girl with a rare, inherited form of Duane Syndrome that affected her ability to look up and caused her eyes to turn inward. She also experienced unusual eye movements linked to jaw movements (Marcus Gunn phenomenon) and had some facial underdevelopment. This case highlights the complex ways Duane Syndrome can present, suggesting that unusual nerve connections to the eye muscles and even the face might be involved. Understanding these variations helps doctors better diagnose and manage the condition.

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Isolated lateral rectus recession with Y splitting versus anchoring of the lateral rectus muscle in patients with exotropic Duane syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201414 citations

Sukhija J, Kaur S, Singh U

This research paper investigated two distinct surgical procedures for patients with exotropic Duane Syndrome who experience problematic upshoots and downshoots. The study aimed to compare the effectiveness of isolated lateral rectus recession with Y splitting versus anchoring of the lateral rectus muscle. Understanding which procedure offers superior outcomes is crucial for improving eye alignment and reducing abnormal eye movements in affected individuals.

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Superior rectus transposition vs medial rectus recession for treatment of esotropic Duane syndrome.

JAMA ophthalmology201451 citations

Yang S, MacKinnon S, Dagi LR, Hunter DG

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For individuals with esotropic Duane Syndrome, where the eye turns inward, two main surgical approaches exist: medial rectus recession (MRc) alone, and a newer technique called superior rectus transposition (SRT), often combined with MRc. This study is designed to compare these different surgical options. The goal is to determine which procedure is more effective, as their outcomes haven't been directly compared before.

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Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component.

Indian journal of ophthalmology201414 citations

Kekunnaya R, Velez FG, Pineles SL

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Managing Duane Retraction Syndrome (DRS) can be complex, particularly when a patient also has significant farsightedness (high hyperopia) leading to a partially accommodative esotropia (an inward-turning eye due to focusing effort). This study reviewed the clinical characteristics and treatment results in patients who have both DRS and this type of esotropia. The goal was to better understand these combined conditions and improve management strategies for affected individuals and their families.

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MRI findings in Duane's ocular retraction syndrome.

Clinical radiology201430 citations

Xia S, Li RL, Li YP, Qian XH, Chong V, Qi J

This research utilized MRI scans to examine the extra-ocular muscles in individuals diagnosed with Duane Syndrome. The primary goal was to investigate the specific patterns of nerve signals (innervation) that control these eye muscles. By studying these patterns, researchers aim to gain a deeper understanding of the underlying causes of the unique eye movements seen in Duane Syndrome, which could help improve future care.

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Stability of Y-splitting procedure combined with hang-back recession of the rectus muscle in rabbit eyes.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie20142 citations

Ahn SE, Han JY, Kim SH, Cho YA, Suh YW

This research explored the stability of a surgical technique called Y-splitting, often combined with a hang-back recession, which is used to address eye movement issues like up-shoots and down-shoots in Duane Syndrome. The study specifically evaluated how well this combined procedure maintains its position in the rectus muscles of rabbit eyes. Understanding the stability of this technique is crucial for ensuring its long-term effectiveness for patients.

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The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.

Seminars in ophthalmology201459 citations

Graeber CP, Hunter DG, Engle EC

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This research paper reviewed and updated the current understanding of the genetic causes behind Duane Syndrome and other related eye movement disorders. It consolidates recent advancements in identifying the specific genes involved, offering a clearer picture of why these conditions develop. This updated information helps patients and parents better understand the underlying genetic basis of Duane Syndrome.

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Vertical muscle transposition augmented with lateral fixation (Foster) suture for Duane syndrome and sixth nerve palsy.

Eye (London, England)201432 citations

Akar S, Gokyigit B, Pekel G, Demircan A, Demirok A

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This research investigated the outcomes of a specific eye surgery called vertical rectus transposition (VRT), combined with a lateral fixation (Foster) suture, for treating Type 1 Duane Syndrome. The study aimed to report how well patients did after this surgery and to determine if the benefits of the Foster suture lasted over time. This information helps understand the effectiveness and long-term stability of this surgical approach for Duane Syndrome.

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8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

Molecular cytogenetics20145 citations

Baroncini A, Bertuzzo S, Quarantini R, Ricciardelli P, Giorda R, Bonaglia MC

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This study reports on a new patient with Duane Syndrome who has a small extra segment of genetic material on chromosome 8, specifically involving the CHD7 gene. Researchers have previously linked this genetic change to a syndrome that includes Duane anomaly, along with other health challenges like developmental delays, heart problems, and distinct facial features. This finding further supports the idea that an increased amount of the CHD7 gene can contribute to Duane Syndrome and other associated conditions, potentially helping families understand the underlying causes of these complex presentations.

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&#x3b1;2-Chimaerin regulates a key axon guidance transition during development of the oculomotor projection.

The Journal of neuroscience : the official journal of the Society for Neuroscience201336 citations

Clark C, Austen O, Poparic I, Guthrie S

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This research used zebrafish to study Duane Syndrome, focusing on a protein called α2-chimaerin, which is known to be involved in human cases. The study found that α2-chimaerin plays a crucial role in guiding the nerves that control eye movement, particularly at a critical stage when these nerves connect to the eye muscles. When α2-chimaerin doesn't function correctly, it leads to nerve growth problems and abnormal eye movements, helping us understand the underlying causes of Duane Syndrome.

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Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus201311 citations

Awadein A

Patients with Duane Syndrome can sometimes experience an 'upshoot,' where one eye moves upwards when looking inward. This research investigated a surgical procedure called inferior oblique myectomy, specifically designed to address this particular eye movement. The study aimed to evaluate the effectiveness of this surgery in improving eye alignment for individuals with Duane Syndrome experiencing an upshoot.

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Fourth cranial nerve palsy and Brown syndrome: two interrelated congenital cranial dysinnervation disorders?

Current neurology and neuroscience reports201323 citations

Kaeser PF, Brodsky MC

This research draws parallels between Duane Syndrome and other congenital eye movement disorders, using Duane Syndrome's known nerve absence and muscle miswiring as a model. It proposes that some cases of Brown Syndrome may stem from a similar issue: a missing trochlear nerve leading to abnormal connections between the eye's oblique muscles. Understanding these shared origins helps researchers better comprehend the underlying causes of these complex conditions, potentially leading to improved diagnosis and management.

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Surgical and functional outcomes in bilateral exotropic Duane's retraction syndrome.

The British journal of ophthalmology201314 citations

Theodorou N, Burke J

This research investigated the effectiveness of surgery for individuals with Duane Syndrome affecting both eyes, particularly when the eyes tend to turn outwards (exotropia or exophoria). The study aimed to understand how well these surgeries improved eye alignment and overall eye function. This information helps patients and parents understand potential surgical benefits for this specific type of Duane Syndrome.

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Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Molecular vision20138 citations

Yang MM, Ho M, Lau HH, Tam PO, Young AL, Pang CP, Yip WW, Chen L

This research looked at a Chinese family to understand the genetic cause of Duane Syndrome. Scientists identified a new mutation in the SALL4 gene that was responsible for the condition in this family. This discovery is important because it helps us better understand the genetic roots of Duane Syndrome and why its symptoms can vary among individuals, even within the same family. This improved understanding can help with diagnosis and genetic counseling for affected families.

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Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.

JAMA ophthalmology201349 citations

Parsa CF, Robert MP

This research proposes a new theory for why Duane Syndrome and other birth defects might happen. It suggests that issues with blood flow or tiny blood clots (thromboembolism) very early in pregnancy could be a common underlying cause for various congenital malformations. This idea aims to connect conditions like Duane Syndrome with other developmental problems, including those linked to thalidomide. Understanding this potential mechanism helps us better comprehend the origins of these conditions.

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Is Duane retraction syndrome part of the VACTERL association?

Clinical ophthalmology (Auckland, N.Z.)20132 citations

Akar S, Gokyigit B, Kavadarli I, Demirok A

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This research paper presents the first reported case of a patient diagnosed with both Type 1 Duane Syndrome and a group of birth differences known as VACTERL association. This unique finding suggests a potential, previously unrecognized link between Duane Syndrome and other congenital abnormalities. For patients and parents, this means doctors might consider a broader health evaluation to look for other conditions when Duane Syndrome is diagnosed, helping to ensure comprehensive care.