Article
Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.
Cold Spring Harbor molecular case studies - 1 Dec 2019
Criscione June, Ji Weizhen, Jeffries Lauren, McGrath James M, Soloway Scott, Pusztai Lajos, Lakhani Saquib
Abstract excerpt
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, MYOC Here, we report the identification of a novel MYOC variant, c.1153G>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...
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