Article
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
Investigative ophthalmology & visual science - 1 Jun 2015
Xu Mingchu, Gelowani Violet, Eblimit Aiden, Wang Feng, Young Marielle P, Sawyer Briana L, Zhao Li, Jenkins Glen, Creel Donnell J, Wang Keqing, Ge Zhongqi, Wang Hui, Li Yumei, Hartnett M Elizabeth, Chen Rui
Abstract excerpt
PURPOSE: Photoreceptor degeneration (PRD) is a genetically heterogeneous retinal disorder. Although a number of genes involved in PRD have been identified, their genetic basis remains unknown in a significant number of patients. In this study, we aimed to identify novel disease-causing genes of PRD. METHODS: Comprehensive ocular examinations were performed in a 2-year-old patient diagnosed with early onset PRD....
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