{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16"],"submitter":["Zhou L"],"pubmed_abstract":["<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 accompan"],"journal":["Frontiers in genetics"],"pagination":["1485874"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12014733"],"repository":["biostudies-literature"],"pubmed_title":["Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment."],"pmcid":["PMC12014733"],"pubmed_authors":["Zhou L","Liao Y","Jiang F","Xiao J","Jiang H","Boboev F","Chen H","Zhang C","Xu Z"],"additional_accession":[]},"is_claimable":false,"name":"Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.","description":"<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 accompan","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2025-07-02T03:04:51.419Z","creation":"2025-07-02T03:04:51.419Z"},"accession":"S-EPMC12014733","cross_references":{"pubmed":["40270540"],"doi":["10.3389/fgene.2025.1485874"]}}