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

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

Abstract 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 coheren...

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Bibliographic Details
Main Authors: Tianwei Qian, Qiaoyun Gong, Hangqi Shen, Caihua Li, Gao Wang, Xun Xu, Isabelle Schrauwen, Weijun Wang
Format: Article
Language:English
Published: BMC 2022-02-01
Series:BMC Ophthalmology
Subjects:
Fundus albipunctatus
RDH5 gene
Frameshift deletion
Missense variants
Online Access:https://doi.org/10.1186/s12886-022-02301-5

Internet

https://doi.org/10.1186/s12886-022-02301-5

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