Congenital Aniridia and the Ocular Surface.

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

Clinical Features of Korean Patients with Congenital Aniridia

PURPOSE To investigate the clinical features of Korean patients with congenital aniridia. METHODS This retrospective study focused on 60 eyes from 31 patients who were diagnosed with congenital aniridia at Kangnam St. Mary's Hospital from 1996 to 2007. Patient age, gender, visual acuity (VA), family history, and previous ocular history were recorded. The presence of keratopathy, glaucoma, cat...

A nonsense PAX6 mutation in a family with congenital aniridia

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 cons...

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...

Diadenosine polyphosphates in the tears of aniridia patients.

PURPOSE To quantify diadenosine polyphosphate levels in tears of congenital aniridia patients to estimate the ocular surface changes associated with congenital aniridia compared to normal individuals. METHODS Fifteen patients diagnosed with congenital aniridia and a control group of forty volunteers were studied. Tears were collected to quantify the levels of diadenosine polyphosphates Ap4 A ...