Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a004374
Abstract: 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… read more here.
Keywords: family; angle glaucoma; myoc; open angle ... See more keywords
Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2020.11.02
Abstract: AIM To report the first discovery of Ser341Pro myocilin (MYOC) variant in Korea and analyze its clinical characteristics and genetic significance. METHODS Ten family members from three generations participated in this study and received the… read more here.
Keywords: ser341pro; family; angle glaucoma; open angle ... See more keywords