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 coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing.

Results

Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deleti

SUBMITTER: Qian T 

PROVIDER: S-EPMC8840791 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature