Congenital Aniridia: Exploring Visual Disabling Manifestations in the Ocular Surface and Ocular Fundus through Clinical and Translational Approaches

Abstract

Congenital aniridia is primarily characterized by hypoplasia of the iris and the retinal fovea. Foveal hypoplasia is the main cause of congenital reduced vision. Keratopathy is common in aniridia, leading to considerable visual impairment. We hypothesized that keratopathy is related to dry eye disease, and that patients with aniridia have more severe dry eye than healthy individuals. Finally, we proposed that autofluorescence imaging could be used to evaluate foveal hypoplasia. First, we studied 35 patients with aniridia and 21 healthy controls. An extensive examination of dry eye disease was undertaken. Next, 14 aniridia patients and 14 matched controls underwent autofluorescence imaging. We detected more severe dry eye disease in aniridia patients than in healthy individuals. Dry eye disease was related to keratopathy. Aniridia patients had increased levels of pro-inflammatory cytokines in the tear fluid. We also found that autofluorescence imaging could be useful in evaluation of foveal hypoplasia. In conclusion, the thesis brings together two main causes of visual disability in aniridia. The results may help improve treatment and follow-up of aniridia patients in the future