{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T06:12:46Z","timestamp":1770963166893,"version":"3.50.1"},"reference-count":69,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Health & Welfare, Republic of Korea","award":["RS-2025-25455885"],"award-info":[{"award-number":["RS-2025-25455885"]}]},{"DOI":"10.13039\/501100008005","name":"Yonsei University College of Medicine","doi-asserted-by":"publisher","award":["6-2024-0098"],"award-info":[{"award-number":["6-2024-0098"]}],"id":[{"id":"10.13039\/501100008005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Myopia is a prevalent ocular condition with marked heterogeneity in onset and progression. Although diagnosis is straightforward, predicting disease trajectories and identifying risks of high or pathologic myopia remain main clinical challenges. Advances in human genetics have substantially reshaped current understanding of myopia, revealing a complex architecture involving common polygenic susceptibility, rare high-impact variants, and cumulative genetic risk burden. Large-scale genome-wide association studies demonstrate that myopia-related variants are enriched in regulatory and signaling pathways that modulate retinal neuronal and glial responses to visual and metabolic stimuli, while exome sequencing studies highlight overlap between early-onset high myopia and inherited retinal or syndromic disorders. Polygenic risk scores further translate common-variant burden into quantitative measures of genetic susceptibility, enabling population-level risk stratification and early risk assessment, albeit with performance differences across ancestries and clinical outcomes. Together, these findings delineate a multilayered genetic framework for myopia and support the role of genetic information as a complementary component of prognostic assessment. Integration of genetic data with longitudinal clinical and environmental information may further improve the prediction of myopia trajectories and facilitate more individualized management strategies.<\/jats:p>","DOI":"10.3390\/diagnostics16040536","type":"journal-article","created":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:25:49Z","timestamp":1770816349000},"page":"536","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis"],"prefix":"10.3390","volume":"16","author":[{"given":"Yuri","family":"Seo","sequence":"first","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8964-6193","authenticated-orcid":false,"given":"Dongheon","family":"Surl","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin 16995, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8607-6625","authenticated-orcid":false,"given":"Jinu","family":"Han","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1016\/S0140-6736(12)60272-4","article-title":"Myopia","volume":"379","author":"Morgan","year":"2012","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajo.2015.01.022","article-title":"International photographic classification and grading system for myopic maculopathy","volume":"159","author":"Kawasaki","year":"2015","journal-title":"Am. 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