Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
作者： Harathy Selvan , Anshul Sharma , Shweta Birla , Shikha Gupta , BinduI Somarajan
关键词:
摘要: A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) angle-closure glaucoma. Clinical genetic first-degree family members done. His brother had a milder form XLRS shallow anterior chamber. Topical dorzolamide 2% timolol 0.5% were used control intraocular pressure. Genetic analysis revealed novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 the RS1 gene family.
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