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

Autor: Panirsheeluam B; Ophthalmology, Hospital Queen Elizabeth, Sabah, Malaysia. Electronic address: buzcer@gmail.com., Abd Ghani S; Ophthalmology, Faculty of Medicine and Health Science, Universiti Malaysia Sabah, Malaysia., Mohamad Isa MI; Ophthalmology, Hospital Wanita dan Kanak-Kanak, Sabah, Malaysia., Alexander SM; Ophthalmology, Hospital Queen Elizabeth, Sabah, Malaysia., Che Hamzah J; Ophthalmology, Universiti Kebangsaan Malaysia Medical Center, Kuala Lumpur, Malaysia., Chee CT; Ophthalmology, Universiti Kebangsaan Malaysia Medical Center, Kuala Lumpur, Malaysia., Hoong CK; Ophthalmology, Hospital Wanita dan Kanak-Kanak, Sabah, Malaysia.
Jazyk: angličtina
Zdroj: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2024 Oct; Vol. 28 (5), pp. 104006. Date of Electronic Publication: 2024 Sep 19.
DOI: 10.1016/j.jaapos.2024.104006
Abstrakt: 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.)
Databáze: MEDLINE
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