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Updated: Jun 12, 2025

Transcriptomic Analysis of Human Retinal Surgical Specimens Using jouRNAl
Published on: August 14, 2013
Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis
Baskar Panirsheeluam1, Shuaibah Abd Ghani2, Mohamad Israk Mohamad Isa3
1Ophthalmology, Hospital Queen Elizabeth, Sabah, Malaysia.
Abstract:
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 Coats-like exudative vitreoretinopathy, retinal detachment, and retinoschisis.

