Congenital Aniridia: A Descriptive Case Report of Six Family Members Showing Multiple Phenotypes of the Same Disease with Genetic Analysis of the PAX-6 Gene

Abstract

Abstract: : Purpose: To describe the pleomorphic clinical presentation of aniridia in a Hispanic family. Setting: Childrens Hospital Los Angeles, CHLA. Methods: A family of Guatemalan descent was identified with congenital aniridia and examined for ophthalmic manifestations. Blood was collected for isolation of genomic DNA and subsequent mutational analysis of the PAX-6 gene. Results: Of the nine family members examined, six were identified as affected with bilateral congenital aniridia. Vision for all affected individuals was at best 20/200 and at worst NLP. Glaucoma was bilateral in three patients. One individual had unilateral glaucoma. All but one individual had some degree of corneal pannus. Two individuals presented with bilateral cataracts, while one individual presented with bilateral subluxed lenses. Foveal hypoplasia was obvious in all affected individuals. One individual had bilateral retinal detachment. Mutational screening of the PAX-6 gene is in progress. Conclusions: This case demonstrates that in a given family with congenital aniridia, in addition to aniridia, some affected individuals can present with myopia, glaucoma, cataracts, sensory nystagmus, retinal detachment, or foveal hypoplasia. This family provides a unique resource for the mutational analysis of the PAX-6 gene.

Keywords: anterior segment • gene/expression