{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T09:14:13Z","timestamp":1788426853382,"version":"build-2803163510"},"reference-count":68,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T00:00:00Z","timestamp":1698364800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III (ISCIII)","award":["18\/1234"],"award-info":[{"award-number":["18\/1234"]}]},{"name":"Instituto de Salud Carlos III (ISCIII)","award":["2020\/0197782"],"award-info":[{"award-number":["2020\/0197782"]}]},{"name":"ERDF, \u201cA way to make Europe\u201d and by ONCE","award":["18\/1234"],"award-info":[{"award-number":["18\/1234"]}]},{"name":"ERDF, \u201cA way to make Europe\u201d and by ONCE","award":["2020\/0197782"],"award-info":[{"award-number":["2020\/0197782"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds \u20136.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance.<\/jats:p>","DOI":"10.3390\/ijms242115676","type":"journal-article","created":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T11:50:18Z","timestamp":1698407418000},"page":"15676","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia"],"prefix":"10.3390","volume":"24","author":[{"given":"Elo\u00edsa","family":"S\u00e1nchez-Cazorla","sequence":"first","affiliation":[{"name":"Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Gonz\u00e1lez-Atienza","sequence":"additional","affiliation":[{"name":"Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0280-0581","authenticated-orcid":false,"given":"Ana","family":"L\u00f3pez-V\u00e1zquez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8049-0238","authenticated-orcid":false,"given":"Natalia","family":"Arruti","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"European Reference Network on Eye Diseases (ERN-EYE), Hospital Universitario La Paz, 28046 Madrid, 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