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Abstract #81347 Published in IGR 20-3

Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma

Selvan H; Birla S; Gupta S; Somarajan BI; Gupta V; Sharma A
Indian Journal of Ophthalmology 2019; 67: 1226-1229

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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.

Dr Rajendra Prasad Centre for Ophthalmic Sciences, Laboratory of Cuto-Molecular Genetics, All India Institute of Medical Sciences, New Delhi, India.

Full article

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Classification:

9.4.5.5 Other (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.5 Glaucomas associated with disorders of the retina, choroid and vitreous)

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