Article
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science - 1 Aug 2010
Abd El-Aziz Mai M, O'Driscoll Ciara A, Kaye Rebecca S, Barragan Isabel, El-Ashry Mohamed F, Borrego Salud, Antiñolo Guillermo, Pang Chi Pui, Webster Andrew R, Bhattacharya Shomi S
Abstract excerpt
PURPOSE: Recently, a novel gene was cloned for autosomal recessive retinitis pigmentosa (arRP), EYS, on 6q12. This study was conducted to determine the spectrum and frequency of EYS mutations in 195 unrelated patients with autosomal recessive and autosomal dominant RP (adRP). METHODS: All cases had a complete ophthalmic examination, and the clinical diagnosis of RP was based on visual acuity, fundus photography,...
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