{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T12:25:08Z","timestamp":1765369508402},"reference-count":29,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:p>Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, <jats:italic>MYOC<\/jats:italic>. Here, we report the identification of a novel <jats:italic>MYOC<\/jats:italic> variant, c.1153G&gt;A, in a 24-yr-old female patient with a personal and family history of juvenile\/early-onset POAG. Further genetic testing within her family demonstrated that this variant segregates with the POAG phenotype in an autosomal dominant pattern. Identification of this <jats:italic>MYOC<\/jats:italic> variant in multiple affected relatives provides evidence for its pathogenicity, supporting previous findings linking <jats:italic>MYOC<\/jats:italic> mutations, in particular in the third exon's olfactomedin domain, to juvenile-onset POAG. This case also emphasizes the potential value of genetic testing in families with histories of eye disorders.<\/jats:p>","DOI":"10.1101\/mcs.a004374","type":"journal-article","created":{"date-parts":[[2019,10,26]],"date-time":"2019-10-26T01:45:19Z","timestamp":1572054319000},"page":"a004374","source":"Crossref","is-referenced-by-count":9,"title":["Identification of a novel <i>MYOC<\/i> variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure"],"prefix":"10.1101","volume":"5","author":[{"given":"June","family":"Criscione","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weizhen","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Jeffries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James 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