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Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
Published on: July 13, 2015
Congenital Aniridia and Ocular motility
Munirah Alafaleq1, Lucie Sordello2, Dominique Bremond-Gignac3
1From the Ophthalmology Department and Centre for Rare Ophthalmological Diseases OPHTARA, Necker Enfants-malades University Hospital, AP-HP, University Paris Cité (M.A., D.B.-G.), Paris, France; Ophthalmology Department, Imam Abdulrahman Bin Faisal University, King Fahd hospital of the university, (M.A.), Dammam, Saudi Arabia.
Insights
Strabismus is common in congenital aniridia, with both esotropia and exotropia frequently observed. Foveal hypoplasia, while prevalent, has minimal impact on strabismus type, but is associated with nystagmus.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Congenital aniridia is a rare genetic disorder characterized by the absence of the iris.
- Strabismus is a common visual impairment in individuals with congenital aniridia, significantly impacting binocular vision.
- Associated ocular conditions such as nystagmus, foveal hypoplasia, and congenital cataracts are frequently observed in patients with aniridia.
Purpose of the Study:
- To investigate the frequency and types of strabismus in patients with congenital aniridia.
- To determine the prevalence of associated nystagmus, foveal hypoplasia, and congenital cataracts in this population.
- To analyze the relationship between strabismus, aniridia subtypes, foveal hypoplasia, and cataract laterality.
Main Methods:
- A prospective, single-center cohort study was conducted.
- Medical records of 379 congenital aniridia patients (aged 12 months to 30 years) were reviewed between 2006 and 2022.
- Ophthalmologic and orthoptic assessments were performed, with strabismus analyzed in relation to aniridia type, foveal hypoplasia, and cataract laterality.
Main Results:
- Strabismus was diagnosed in 150 patients, with 73 included in the final analysis.
- Esotropia (49.3%) and exotropia (50.7%) were equally prevalent. Nystagmus was detected in 96% of patients.
- Foveal hypoplasia was universal (100%), congenital cataracts were present in 53.4%, and PAX6 mutations in 77%.
Conclusions:
- Strabismus is a significant clinical manifestation of congenital aniridia.
- While foveal hypoplasia is highly prevalent and linked to nystagmus, its impact on strabismus type is minimal.
- Cataract laterality may influence strabismus presentation, highlighting the complexity of visual development in aniridia.
Purpose:
To study the frequency and types of strabismus in congenital aniridia, the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts.
Design:
Prospective, single-center cohort study.
Methods:
A review was conducted of 379 medical records of congenital aniridia patients who had a follow-up at the Necker-Enfants malades University Hospital between 2006 and 2022; the target age was between 12 months and 30 years. Ophthalmologic and orthoptic assessments according to age were performed. Strabismus was further analyzed according to the type of aniridia, foveal hypoplasia, and laterality of congenital cataract.
Results:
Strabismus was diagnosed in 150 patients; 73 were included in the study (28 males [38%] and 45 females [62%]), with a mean age of 11.02 years. The mean follow-up was 24 months. Thirty-six (49.3%) presented with familial aniridia, and 37 (50.7%) presented with sporadic aniridia. Thirty-six (49.3%) were diagnosed with esotropia, 37 (50.7%) had exotropia. Nystagmus was detected in 70 patients (96%). Thirty-nine (53.4%) suffered from congenital cataract, 10 unilateral (25.7%) and 29 bilateral (74.3%). Foveal hypoplasia was found in 73 cases (100%); esotropia was predominant in all grades. PAX6 mutation was found in 56 patients (77%).
Conclusion:
Strabismus is one of the clinical signs of congenital aniridia. The laterality of congenital cataracts seems to affect the type of strabismus. The grade of foveal hypoplasia has little impact on strabismus but is prevalent for nystagmus. Foveal hypoplasia affects optical focus, which is essential for binocularity; this could explain the poor binocular adjustment leading to strabismus without exotropia or esotropia predominance.
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