ArticleInternational journal of ophthalmology2014
R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.
Article in International journal of ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Angle closure glaucoma in a patient with X-linked retinoschisis: a case report.International journal of ophthalmology · 2025Article
- Surgical treatment of autosomal recessive bestrophinopathy with angle-closure glaucoma: vitreous liquefaction as the key to correcting postoperative malignant glaucoma-three case reports.Frontiers in medicine · 2025Article
- Management of angle-closure glaucoma with X-linked retinoschisis: a case report.BMC ophthalmology · 2023Article
- A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis.Experimental and therapeutic medicine · 2021Article
- Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.Indian journal of ophthalmology · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.
methodsComplete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced.
resultsThe proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes, involving the macula and combined with foveal cystic change, reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure (IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W (c.304C>T) mutations in the affected male, and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism (c.576C>CT).
conclusionWe identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.
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