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Article

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families.

BMC ophthalmology - 16 Mar 2026

Xing Dongjun, Zhao Cece, Shao Yan, Yu Rongguo, Cheng Zhaohui, Wang Linni, Cai Bincui, Gong Yibo, Li Zhiqing, Li Xiaorong

Abstract excerpt

PURPOSE: X-linked retinoschisis (XLRS) is an X-linked recessive (XLR) inherited retinal disease. Accurate diagnosis of XLRS is difficult because of its diverse clinical presentations and genetic heterogeneity. However, targeted exome sequencing (TES) can aid in making an accurate diagnosis, especially for patients with no typical pathologic symptoms. The aim of this study was to identify pathogenic mutations in...

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Identifiers

PMID: 41840530
DOI: 10.1186/s12886-026-04731-x
PMCID: PMC13104301

Genes

RS1
TES

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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