Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.

ABSTRACT:

Introduction

Our previous research identified pathogenic variants in RetNet genes in 23.4% of individuals with early-onset high myopia. This study aims to analyze the genetic defects in patients with high myopia complicated by rhegmatogenous retinal detachment.

Method

Whole-exome sequencing was performed on 40 patients with high myopia accompanied by retinal detachment. Variants were filtered from 281 RetNet genes, 178 genes related to syndromic high myopia, 23 non-syndromic high myopia-associated genes, and 29 rhegmatogenous retinal detachment-related genes using a multistep bioinformatics approach. Clinical data were collected for genotype-phenotype correlation analysis.

Results

Pathogenic variants were detected in 47.5% (19/40) in patients with high myopia accompan

SUBMITTER: Zhou L 

PROVIDER: S-EPMC12014733 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature