Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.

ABSTRACT:

Background

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder marked by incomplete retinal vascularization associated with exudation, neovascularization, and tractional retinal detachment. FEVR is genetically heterogeneous and is caused by variants in six genes: FZD4, LRP5, NDP, TSPAN12, ZNF408, and CTNNB1. In addition, the phenotypic overlap between FEVR and other disorders has been reported in patients harboring variants in other genes, such as KIF11, ATOH7, and RCBTB1.

Purpose

To identify pathogenic variants in Vietnamese pediatric patients diagnosed with FEVR and to investigate the clinical findings in correlation with each causative gene.

Methods

A total of 20 probands underwent ocular examinations with fundoscopy

SUBMITTER: Trang DT 

PROVIDER: S-EPMC10115361 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature