Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.

ABSTRACT:

Objective

To explore the clinical manifestations and search for the variants of six related genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial exudative vitreoretinopathy (FEVR), and investigate the correlation between the genetic variants and the clinical characteristics.

Patients and methods

Clinical data, including the retinal artery angle, acquired from wide-field fundus imaging, structural and microvascular features of the retina obtained from optical coherence tomography (OCT) and OCT angiography (OCTA) were collected from 33 pedigrees. Furthermore, mutation screening was performed. Variants filtering, bioinformatics analysis and Sanger sequencing were conducted to verify the variants.

Resul

SUBMITTER: Mao J 

PROVIDER: S-EPMC9704097 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature