Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

ABSTRACT:

Purpose

To determine the clinical characteristics of familial exudative vitreoretinopathy (FEVR) associated with or without pathogenic variants of the Norrin/β-catenin genes.

Design

This was a multicenter, cross-sectional, observational, and genetic study.

Subjects

Two-hundred eighty-one probands with FEVR were studied.

Methods

Whole-exome sequence and/or Sanger sequence was performed for the Norrin/β-catenin genes, the FZD4, LRP5, TSPAN12, and NDP genes on blood collected from the probands. The clinical symptoms of the probands with or without the pathogenic variants were assessed as well as differences in the inter Norrin/β-catenin genes.

Main outcome measures

The phenotype associated with or without pathogenic variants of t

SUBMITTER: Kondo H 

PROVIDER: S-EPMC11179410 | biostudies-literature | 2024 Sep-Oct

REPOSITORIES: biostudies-literature