Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.

doi:10.1186/s12886-022-02301-5

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Article

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.

BMC ophthalmology - 11 Feb 2022

Qian Tianwei, Gong Qiaoyun, Shen Hangqi, Li Caihua, Wang Gao, Xu Xun, Schrauwen Isabelle, Wang Weijun

Abstract excerpt

BACKGROUND: The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus. METHODS: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood...

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PMID: 35148716
DOI: 10.1186/s12886-022-02301-5
PMCID: PMC8840791

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