title: Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis.
abstract: Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its presence has implications in the patient's visual acuity. Managing aniridia is challenging since the focus is on treating the previously mentioned disorders, and the outcomes are often disappointing. In this paper, we shall review the epidemiology, pathophysiology, and clinical characteristics of patients with aniridia. We shall also make a review of the therapeutic options for the several conditions affecting this syndrome and consider the genetics and prognostic factors.
authors.affiliation: Faculty of Medicine, University of Porto, Hospital de São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
authors.forename: Pedro
authors.identifier: 0000-0002-3486-2317
authors.initials: P
authors.lastname: Calvão-Pires
authors.affiliation: Department of Sense Organs, Faculty of Medicine, University of Porto, Hospital de São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
authors.forename: R
authors.initials: R
authors.lastname: Santos-Silva
authors.affiliation: Department of Sense Organs, Faculty of Medicine, University of Porto, Hospital de São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
authors.forename: F
authors.initials: F
authors.lastname: Falcão-Reis
authors.affiliation: Department of Sense Organs, Faculty of Medicine, University of Porto, Hospital de São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
authors.forename: A
authors.initials: A
authors.lastname: Rocha-Sousa