Selvan, HSharma, ABirla, SGupta, SSomarajan, BIGupta, VSharma, A2020-04-102020-04-102019-07Selvan 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): 1226-12290301-47381998-3689http://imsear.searo.who.int/handle/123456789/197409A 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.Angle-closure glaucomadorzolamidefoveoschisisRS1 mutationX-linked retinoschisisMolecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucomaJournal ArticleIndiaDr Rajendra Prasad Centre for Ophthalmic Sciences, Laboratory of Cuto-Molecular Genetics, All India Institute of Medical Sciences, New Delhi, IndiaDepartment of Anatomy, Laboratory of Cuto-Molecular Genetics, All India Institute of Medical Sciences, New Delhi, India