1. Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis.
- Author
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Panirsheeluam B, Abd Ghani S, Mohamad Isa MI, Alexander SM, Che Hamzah J, Chee CT, and Hoong CK
- Subjects
- Humans, Male, Child, Pedigree, Mutation, Adolescent, Phenotype, Female, Siblings, Retinal Detachment genetics, Retinal Detachment diagnosis, Ophthalmoscopy, Genetic Testing, DNA Mutational Analysis, Genotype, Retinoschisis genetics, Retinoschisis diagnosis, Tomography, Optical Coherence methods, Eye Proteins genetics, Fluorescein Angiography methods
- 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., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
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