Ocular and systemic findings in a survey of aniridia subjects

Abstract

Purpose: To determine the prevalence of ocular and systemic abnormalities in a group of subjects with aniridia.

Methods: Survey forms developed by Aniridia Foundation International were sent to all members prior to the 2010 AFI member conference. An additional form was provided for completion by physicians caring for patients. Forms were then collected from all members who attended the meeting.

Results: A total of 155 surveys were distributed, of which 83 (53%) were completed. The mean age was 25.4 ± 18.4 years, with 65% sporadic and 35% familial cases, and 2.4% with WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome. Ocular abnormalities included nystagmus (83%), cataract (71%), dry eye (53%), glaucoma (46%), keratopathy (45%), foveal hypoplasia (41%), strabismus (31%), and retinal disease (5%). The mean age at diagnosis of aniridia was 22.1 months (median, 1.5 months) and glaucoma was 13.6 years (median, 8.5 years). Of 38 subjects with aniridia and glaucoma, 76% were treated medically, and 58% had been treated surgically. In subjects with glaucoma, the mean number (± SD) of glaucoma medications was 1.8 ± 1.3, and number of surgical procedures was 1.7 ± 2.0. Developmental delay was reported in 17%. The mean body mass index and the prevalence of obesity in subjects with aniridia was significantly greater (P = 0.003) than in siblings without aniridia.

Conclusions: In this study, aniridia was associated with nystagmus and other motility problems, cataract, glaucoma, and keratopathy. Systemic abnormalities included increased average body mass index and obesity, which appeared to occur not only in WAGR syndrome but more broadly in aniridia.