Congenital aniridia and strabismus

Abstract

AbstractPurposeCongenital aniridia is a panocular disease with congenital absence of iris. Congenital Aniridia affects, beyond iris, cornea, angle structures, lens and fovea, and possibly associated with other anomalies. This genetic rare disease can cause severe visual impairment occurring from various mechanisms as glaucoma, limbal insufficiency and foveal hypoplasia. PAX6 gene is mainly involved in the disease. We aim to understand the features of patients with congenital aniridia and strabismus from 1 yo to 30 yo, identifying the characteristics of oculomotor anomalies.MethodsWe analyse our 330 aniridia patients cohort in a retrospective study to identify patient with a good fixation and minimal cooperation. All patients underwent history of the disease, a complete ocular examination with ophthalmic exploration, orthoptic and had genetic molecular analysis.ResultsOf the 330 subjects cohort, 36 patients, 23 females and 13 males (range 1 yo to 30 yo) were identified and diagnosed with strabismus with mean age of 11.02 yo. A family history was reported in 55% of the patients. Marked nystagmus was present in 69% of the cases. Foveal hypoplasia from Thomas classification, was observed in all patients and Grade IV in 86% of cases. Esotropia was observed in 38.8%, exotropia in 36.1% and hypertropia in 5.5%. Associated congenital cataract is described and worsened the strabismus.ConclusionsOur study demonstrated a high frequency of strabismus in congenital aniridia. Marked nystagmus and associated congenital cataract worsened the strabismus treatment. In this rare disease, further studies are required for the follow‐up of aniridia patients in order to get better therapeutic options.