Open AccessMolecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
Author(s) -
Harathy Selvan,
Anshul Sharma,
Shweta Birla,
Viney Gupta,
BinduI Somarajan,
Viney Gupta,
Aruna Sharma
Publication year - 2019
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_1407_18
Subject(s) - medicine , retinoschisis , glaucoma , ophthalmology , intraocular pressure , genetics , biology , retinal detachment , retinal
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.