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 and ocular manifestations were studied. RESULTS The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had parents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hypoplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm's tumor. CONCLUSIONS Congenital aniridia was commonly associated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glaucoma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management.