Article
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2012
Wang Nan-Kai, Chuang Lan-Hsin, Lai Chi-Chun, Chou Chai Lin, Chu Hsueh-Yen, Yeung Ling, Chen Yen-Po, Chen Kuan-Jen, Wu Wei-Chi, Chen Tun-Lu, Chao An-Ning, Hwang Yih-Shiou
Abstract excerpt
The aim of this study was to describe multimodal retinal imaging of fundus albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation and to review the relevant literature. Five family members were examined, and the RDH5 gene was analyzed by direct sequencing. The clinical features and genetic study of FA are reviewed. The proband had a compound heterozygotic missense mutation of Cys59Ser...
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