Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.
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SUBMITTER: Selvan H
PROVIDER: S-EPMC6611297 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
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Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.
Selvan Harathy H Sharma Anshul A Birla Shweta S Gupta Shikha S Somarajan Bindu I BI Gupta Viney V Sharma Arundhati A
Indian journal of ophthalmology 20190701 7
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 ...[more]
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