Baskar Panirsheeluam, Shuaibah Abd Ghani, Mohamad Israk Mohamad Isa, Sheena Mary Alexander, Jemaima Che Hamzah, Teck Chee Cheng, Kwok Hoong Chan
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Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis.
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.
期刊介绍:
Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.