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Article

Disparate X-linked retinoschisis phenotypes in fraternal twins with the same pathogenic variant in the RS1 gene.

Ophthalmic genetics - 1 Oct 2025

Kiraly Peter, Sperring Sian, Reichel Felix F, Fischer M Dominik

Abstract excerpt

INTRODUCTION: In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes. METHODS: This is a retrospective case report. Both patients underwent best-corrected...

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Identifiers

PMID: 40090885
DOI: 10.1080/13816810.2025.2479522

Genes

RS1

Variants

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