Congenital Aniridia and the Ocular Surface

Congenital Aniridia and the Ocular Surface.

Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial gene for proper development of the eye. Aniridia affects a range of eye structures, including the cornea, iris, anterior chamber angle, lens, and fovea. The ocular surface, in particular, can be severely affected by a progressive pathology termed aniridia-associated keratopathy (AAK), markedly contribu...

Characteristics of the cornea and ocular surface in patients with congenital aniridia Introduction

Congenital Aniridia

Aniridia is a rare bilateral condition that may have life-threatening associations. It occurs as a result of abnormal neuroectodermal development secondary to a mutation in the PAX6 gene linked to 11p13. This gene controls the development of a number of structures, hence the broad nature of ocular and systemic associations.This article presents a review of congenital aniridia including epidemio...

Clinical manifestations of congenital aniridia.

PURPOSE To study the various clinical manifestations associated with congenital aniridia in an Indian population. METHODS In this retrospective, consecutive, observational case series, all patients with the diagnosis of congenital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated systemic an...

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial fea...