biostudies-literatureUnknown16Zhou L<h4>Introduction</h4>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.<h4>Method</h4>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.<h4>Results</h4>Pathogenic variants were detected in 47.5% (19/40) in patients with high myopia accompanFrontiers in genetics1485874https://www.ebi.ac.uk/biostudies/studies/S-EPMC12014733biostudies-literatureGenetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.PMC12014733Zhou LLiao YJiang FXiao JJiang HBoboev FChen HZhang CXu ZfalseGenetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.<h4>Introduction</h4>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.<h4>Method</h4>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.<h4>Results</h4>Pathogenic variants were detected in 47.5% (19/40) in patients with high myopia accompan2025-01-01T00:00:00Z20252025-07-02T03:04:51.419Z2025-07-02T03:04:51.419ZS-EPMC120147334027054010.3389/fgene.2025.1485874