ArticleIndian journal of ophthalmology2019
Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.
Article in Indian journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- Angle closure glaucoma in a patient with X-linked retinoschisis: a case report.International journal of ophthalmology · 2025Article
- Management of angle-closure glaucoma with X-linked retinoschisis: a case report.BMC ophthalmology · 2023Article
- Rare eye diseases in India: A concise review of genes and genetics.Indian journal of ophthalmology · 2022Review
- Efficacy of topical brinzolamide in children with retinal dystrophies.Ophthalmic genetics · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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