{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T19:03:27Z","timestamp":1785438207868,"version":"3.56.0"},"reference-count":37,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T00:00:00Z","timestamp":1730678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Objective<\/jats:title>\n<jats:p>High myopia is a significant risk factor for irreversible vision loss and can occur in isolation or as a component of various syndromes. However, the genetic basis of early-onset high myopia remains poorly understood. We aimed to identify the causative genetic variants for high myopia in a cohort of Slovenian children.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Methods<\/jats:title>\n<jats:p>The study included children referred to a tertiary paediatric ophthalmology centre at the University Eye Clinic in Ljubljana between 2010 and 2022. The participants met the following inclusion criteria: age \u2264 15 years and high myopia \u2264-5.0 D before the age of 10 years. Genetic analysis included exome sequencing and\/or molecular karyotyping. Participants were categorized based on clinical presentation: high myopia with systemic involvement, high myopia with ocular involvement, and isolated high myopia.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Results<\/jats:title>\n<jats:p>Genetic analysis of 36 probands revealed a genetic cause of high myopia in 22 (61.1%) children. Among those with systemic involvement (50.0%), genetic causes were identified in 13 out of 18 children, with Stickler\u2019s and Pitt-Hopkins being the most common syndromes. Among cases of high myopia with ocular involvement (38.9%), a genetic cause was found in 8 out of 14 probands, including (likely) pathogenic variants in genes related to retinal dystrophies (<jats:italic>CACNA1F<\/jats:italic>, <jats:italic>RPGR<\/jats:italic>, <jats:italic>RP2<\/jats:italic>, <jats:italic>NDP<\/jats:italic>). The non-syndromic <jats:italic>ARR3<\/jats:italic>- associated high myopia was identified in the isolated high myopia group.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Conclusions<\/jats:title>\n<jats:p>A genetic cause of high myopia was identified in 61.1% of children tested, demonstrating the value of genetic testing in this population for diagnosis and proactive counseling.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0313121","type":"journal-article","created":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T18:22:24Z","timestamp":1730744544000},"page":"e0313121","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic background of high myopia in children"],"prefix":"10.1371","volume":"19","author":[{"given":"Urh","family":"\u0160enk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"\u010ci\u017eman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Writzl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3730-0229","authenticated-orcid":true,"given":"Manca","family":"Tekav\u010di\u010d Pompe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2024,11,4]]},"reference":[{"key":"pone.0313121.ref001","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/s41572-020-00231-4","article-title":"Myopia","volume":"6","author":"PN Baird","year":"2020","journal-title":"Nat Rev Dis 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