Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis.

Abstract excerpt

RS1 gene mutations are known to be a direct cause of the hereditary retinopathy known as retinoschisis. We describe a group of 3 siblings with the same RS1 gene mutation who presented with different retinopathy phenotypes. Genetic testing confirmed the RS1 genotypes. Clinical ophthalmoscopy, color fundus photography, optical coherence tomography, and fundus fluorescein angiography identified manifestations of...