ArticleScientific reports2017
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.Scientific reports · 2025Article
- Retinal honeycomb appearance and its role in patients with X-linked retinoschisis.BMC ophthalmology · 2023Article
- AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis.PloS one · 2022Article
- A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.Frontiers in genetics · 2022Article
- Whole-exome sequencing identifies anExperimental and therapeutic medicine · 2021Article
- Article
- Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.Acta ophthalmologica · 2021Article
- A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis.Experimental and therapeutic medicine · 2021Article
- Clinical findings andMolecular vision · 2020Article
- A case of X-linked retinoschisis with atypical fundus appearance.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.The Journal of cell biology · 2019Article
- An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.Translational vision science & technology · 2019Article
- Advanced Diabetic Nephropathy with "Clean" Eyes: An Extreme Phenotype.Indian journal of endocrinology and metabolismArticle
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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
Many mutations in the retinoschisis (RS1) gene have been identified, but there are limited clinical data relating to the different genotypes. This study investigated the genotype, clinical phenotype and therapies for X-linked juvenile retinoschisis (XLRS) patients in China to evaluate the effects of gene mutations and therapies on the prognosis of the disease. Thirty patients were recruited in the study. Genetic examination identified 8 novel RS1 gene mutations. Twenty-four patients were identified as missense mutation, which was the most common gene mutation in XLRS patients. Amino acids 102 and 209 were the most common mutation areas, accounting for a total 35.7% of all patients. Mutations affecting amino acid 102 were associated with poor results on the flash electroretinogram (ERG). Sixteen patients had various complications. Anti-vascular endothelial growth factor (VEGF) drugs were given to four patients with hemorrhage or other complications, and serious adverse events did not occur. Our outcome demonstrates that missense mutation was the leading cause of XLRS and more than half of the patients with this missense had various complications. Anti-VEGF drugs may be an effective and safe way to prevent deterioration of XLRS with certain complications. There is wide genotypic and phenotypic variability in Chinese patients with XLRS.
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