Congenital Aniridia and Ocular motility

center dot PURPOSE: To study the frequency and types of stra-bismus in congenital aniridia, the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts.DESIGN: Prospective, single-center cohort study.center dot 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 as-sessments according to age were performed. Strabismus was further analyzed according to the type of aniridia, foveal hypoplasia, and laterality of congenital cataract.center dot 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%) pre-sented with familial aniridia, and 37 (50.7%) presented with sporadic aniridia. Thirty-six (49.3%) were diag-nosed with esotropia, 37 (50.7%) had exotropia. Nys-tagmus 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. PA2C6 mutation was found in 56 patients (77%).center dot 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 preva-lent for nystagmus. Foveal hypoplasia affects optical fo-cus, which is essential for binocularity; this could explain the poor binocular adjustment leading to strabismus with-out exotropia or esotropia predominance. (Am J Ophthalmol 2023;247: 145-151.(c) 2022 Elsevier Inc. All rights reserved.)

Automated summary

This study aimed to investigate the frequency and types of strabismus in patients with congenital aniridia, as well as the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts. The results showed that strabismus is one of the clinical signs of congenital aniridia, and the laterality of congenital cataracts seems to affect the type of strabismus. Foveal hypoplasia has little impact on strabismus but is prevalent for nystagmus.