Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
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Date
2019-07
Journal Title
Journal ISSN
Volume Title
Publisher
All India Ophthalmological Society
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.
Description
Keywords
Angle-closure glaucoma, dorzolamide, foveoschisis, RS1 mutation, X-linked retinoschisis
Citation
Selvan H, Sharma A, Birla S, Gupta S, Somarajan BI, Gupta V, Sharma A. Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma. Indian Journal of Ophthalmology. 2019 Jul; 67(7): 1226-1229