Genotype‐phenotype correlation in a French cohort of aniridia

Abstract

AbstractCongenital aniridia consists in a complex malformation of the eye with congenital absence of iris. Aniridia is a rare panocular disorder affecting, 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, identifying the characteristics phenotypes of the disease and its associated anomalies. We analyse our patient cohort who underwent a complete ocular examination with ophthalmic exploration and who had genetic molecular analysis. Specific analysis of each ocular feature (as aniridia‐related keratopathy, glaucoma, cataract, foveal hypoplasia, optic nerve hypoplasia and other features) is detailed with early clinical signs that can be observed. An evaluation of risk factors is required for the follow‐up of aniridia patients in order to get a better therapeutic orientation.