{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:58:15Z","timestamp":1789750695890,"version":"4.0.1"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T00:00:00Z","timestamp":1744156800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014717","name":"National Outstanding Youth Science Fund Project of National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014717","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathogenic variants were detected in 47.5% (19\/40) in patients with high myopia accompanied by retinal detachment, specifically in RetNet genes (18\/40), rhegmatogenous retinal detachment-related genes (11\/40), and syndromic high myopia associated genes (10\/40). No variants were found in non-syndromic genes. The most prevalent pathogenic genes for high myopia with retinal detachment were Stickler-related genes, including <jats:italic>COL2A1<\/jats:italic> (10.0%, 4\/40) and <jats:italic>COL11A1<\/jats:italic> (5.0%, 2\/40). Patients with Stickler-related gene variants presented the youngest average age of retinal detachment onset (35.17 \u00b1 18.03\u00a0years) and shortest axial length (27.63 \u00b1 1.01\u00a0mm).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>RetNet genes are the predominant causative genes (18\/40, 45.0%) in patients with high myopia and retinal detachment. The findings affirm that Stickler syndrome (15%) is a significant etiological factor for high myopia accompanied by retinal detachment. We recommend enhanced comprehensive systemic and ophthalmic examinations for patients with high myopia to enable early detection and prevention of retinal detachment.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2025.1485874","type":"journal-article","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T05:20:07Z","timestamp":1744176007000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment"],"prefix":"10.3389","volume":"16","author":[{"given":"Lin","family":"Zhou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farrukhjon","family":"Boboev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanwen","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongchuan","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuping","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,4,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1016\/j.ophtha.2007.03.059","article-title":"Retinal detachment and prophylaxis in type 1 Stickler syndrome","volume":"115","author":"Ang","year":"2008","journal-title":"Ophthalmology"},{"key":"B2","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1038\/eye.2015.43","article-title":"Ethnic variation in rhegmatogenous retinal detachments","volume":"29","author":"Chandra","year":"2015","journal-title":"Eye (Lond)"},{"key":"B3","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1097\/ICU.0000000000000599","article-title":"Stickler syndrome: exploring prophylaxis for retinal detachment","volume":"30","author":"Coussa","year":"2019","journal-title":"Curr. 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