Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma

Abstract

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375-377 del AGA) in exon-5 of the RS1 gene in three members of the family.