Purpose: To evaluate the clinical overlap of families with Duane syndrome and infantile esotropia to determine whether the identification of genes for Duane syndrome may explain some cases of infantile esotropia.
Methods: Three separate groups of patients were evaluated. 1) Families with features of infantile esotropia were identified through the Strabismus Inheritance Study Tasmania (SIST). Clinical details of participants and their families were reviewed for any cases of Duane syndrome. 2) Cases of Duane syndrome were identified through the clinical diagnostic database at the Royal Children's Hospital, Melbourne, and private ophthalmology clinics in Melbourne and Tasmania. Previous medical notes were reviewed and family history of strabismus noted. All affected individuals were invited for re-examination in cases where a positive family history of strabismus was reported; siblings, parents, and other family members, where appropriate, were invited to be examined for signs of Duane syndrome or infantile esotropia. 3) Cases of mosaic trisomy 8, which has been associated with Duane syndrome and infantile esotropia, were reviewed for signs of strabismus.
Results: A total of 133 families from the SIST were reviewed, but no 'pure' families of Duane syndrome were identified. Two families with infantile esotropia had several members affected with Duane syndrome. Of the 40 index cases with Duane syndrome whose families agreed to be involved in the study, 21 had a family history of ocular motility disorders, but only two of these families had multiple cases of Duane syndrome. From 24 cases with mosaic trisomy 8, one individual case had Duane syndrome and another had mild congenital cataracts and infantile esotropia.
Conclusions: There is clinical overlap in families with Duane syndrome and infantile esotropia. We confirmed the previous association of mosaic trisomy 8 with both Duane syndrome and infantile esotropia. These data suggest that the two conditions may be allelic and may be due to a gene on chromosome 8.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/13816810490498323 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Successful outcome in synergistic divergence after unilateral lateral rectus recession and medial rectus resection.
J AAPOS
December 2024
Department of Ophthalmology, Brown University Warren Alpert Medical School and Rhode Island Hospital (RIH), Providence, Rhode Island; Pediatric Ophthalmology and Strabismus Associates, Providence, Rhode Island.
Article Synopsis
- Synergistic divergence, or type IV Duane syndrome, is a congenital disorder marked by unusual eye muscle control leading to both eyes moving outward when trying to look to one side.
- A case study of a 23-year-old man highlighted his strabismus surgery to address a significant right exotropia and a left head turn developed for better vision since childhood.
- The surgery involved a combination of a 14 mm recession of the right lateral rectus and a 10 mm resection of the right medial rectus, suggesting this approach as an effective treatment for the condition.
Duane Retraction Syndrome: A Report of Two Cases and Review of Literature.
Cureus
November 2024
Department of Ophthalmology, College of Medicine, University of Bisha, Bisha, SAU.
Stilling-Duane syndrome, a congenital condition characterized by aberrant innervation of the lateral rectus muscle and agenesis of the abducent nerve or its nucleus, results in limited horizontal eye movements. It is often misdiagnosed as acquired abducent nerve paralysis. This report highlights the importance of considering Stilling-Duane syndrome in differential diagnoses.
View Article and Find Full Text PDFEvaluation of auditory pathways and comorbid inner ear malformations in pediatric patients with Duane retraction syndrome.
Int J Pediatr Otorhinolaryngol
December 2024
Hacettepe University, Faculty of Medicine, Department of Opthalmology, Ankara, Turkey.
Aims And Objectives: This study aimed to investigate the presence, type, and severity of hearing losses in individuals with Duane Retraction Syndrome (DRS), and to ascertain if there are anomalies in the auditory pathways at the brainstem level in DRS, believed to arise from aberrant interaction between cranial nerves and brainstem nuclei.
Study Design: Cross-sectional observational study.
Setting: Tertiary referral centre.
Duane retraction syndrome associated with variant of Rubinstein-Taybi syndrome.
Am J Ophthalmol Case Rep
December 2024
University of California, San Francisco, Department of Ophthalmology, USA.
Purpose: This case report describes a child with Duane retraction syndrome (DRS) associated with genetically confirmed Type II Rubinstein-Taybi syndrome (RTS). The purpose is to better understand the ocular manifestations of RTS and further explore the possibility that the neurodevelopmental genetic abnormality in RTS may sporadically impact ocular motor nerves.
Observations: A 2-year-old male with a history of Type II RTS associated with a de novo variant of presented for a comprehensive eye examination, which revealed a left esotropia of 20 prism diopters (PD) in primary gaze with a significant left face turn, mild globe retraction on adduction in the left eye, and abduction limitation consistent with Type 1 DRS in the left eye.
Purpose: To compare the effectiveness of two surgical approaches in the management of exotropic Duane retraction syndrome (DRS) cases with significant overshoot and retraction.
Methods: A retrospective analysis was conducted on patients with exotropic DRS who experienced significant overshoot and globe retraction. Patients with incomplete medical records or previous strabismus surgery were excluded.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!