{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T07:04:41Z","timestamp":1784703881346,"version":"3.55.0"},"reference-count":113,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T00:00:00Z","timestamp":1649635200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fundaci\u00f3n ONCE","award":["2020\/0197782"],"award-info":[{"award-number":["2020\/0197782"]}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["18\/1234"],"award-info":[{"award-number":["18\/1234"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Early-onset high myopia (EoHM) is a disease that causes a spherical refraction error of \u2265\u22126 diopters before 10 years of age, with potential multiple ocular complications. In this article, we report a clinical and genetic study of 43 families with EoHM recruited in our center. A complete ophthalmological evaluation was performed, and a sample of peripheral blood was obtained from proband and family members. DNA was analyzed using a customized next-generation sequencing panel that included 419 genes related to ophthalmological disorders with a suspected genetic cause, and genes related to EoHM pathogenesis. We detected pathogenic and likely pathogenic variants in 23.9% of the families and detected variants of unknown significance in 76.1%. Of these, 5.7% were found in genes related to non-syndromic EoHM, 48.6% in genes associated with inherited retinal dystrophies that can include a syndromic phenotype, and 45.7% in genes that are not directly related to EoHM or retinal dystrophy. We found no candidate genes in 23% of the patients, which suggests that further studies are needed. We propose a systematic genetic analysis for patients with EoHM because it helps with follow-up, prognosis and genetic counseling.<\/jats:p>","DOI":"10.3390\/ijms23084233","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T00:23:11Z","timestamp":1649722991000},"page":"4233","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study"],"prefix":"10.3390","volume":"23","author":[{"given":"Eva","family":"Gonz\u00e1lez-Iglesias","sequence":"first","affiliation":[{"name":"Section of Molecular Ophthalmology, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 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, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4108-2383","authenticated-orcid":false,"given":"Susana","family":"Noval","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6972-0880","authenticated-orcid":false,"given":"Mar\u00eda","family":"Nieves-Moreno","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Granados-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, La Paz University Hospital, 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, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Rosa-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Pacio-M\u00edguez","sequence":"additional","affiliation":[{"name":"Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain"},{"name":"Section of Neurodevelopmental Disorders, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria E. F.","family":"Monta\u00f1o","sequence":"additional","affiliation":[{"name":"Section of Molecular Ophthalmology, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain"},{"name":"Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Rodr\u00edguez-Solana","sequence":"additional","affiliation":[{"name":"Section of Molecular Ophthalmology, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"del Pozo","sequence":"additional","affiliation":[{"name":"Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain"},{"name":"Section of Clinical Bioinformatics, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Santos-Simarro","sequence":"additional","affiliation":[{"name":"Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain"},{"name":"Section of Clinical Genetics, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8080-8629","authenticated-orcid":false,"given":"Elena","family":"Vallesp\u00edn","sequence":"additional","affiliation":[{"name":"Section of Molecular Ophthalmology, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain"},{"name":"Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,11]]},"reference":[{"key":"ref_1","unstructured":"Ar\u00e1nguez-Cort\u00e9s, C., Cort\u00e9s-Ordu\u00f1a, I., del-R\u00edo-Fern\u00e1ndez, S., Donate-L\u00f3pez, J., Franco-Iglesias, G., Garc\u00eda-S\u00e1enz, S., Gil-Ruiz, R., Isasi-Saseta, M., Mart\u00edn-Justicia, A., and Mart\u00edn-Hern\u00e1ndez, E. 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