Article
Truncation mutations in MYRF underlie primary angle closure glaucoma.
Human genetics - 1 Jan 2023
Ouyang Jiamin, Sun Wenmin, Shen Huangxuan, Liu Xing, Wu Yingchen, Jiang Hongmei, Li Xueqing, Wang Yingwei, Jiang Yi, Li Shiqiang, Xiao Xueshan, Hejtmancik J Fielding, Tan Zhiqun, Zhang Qingjiong
Abstract excerpt
Mutations in myelin regulatory factor (MYRF), a gene mapped to 11q12-q13.3, are responsible for autosomal dominant high hyperopia and seem to be associated with angle closure glaucoma, which is one of the leading causes of irreversible blindness worldwide. Whether there is a causal link from the MYRF mutations to the pathogenesis of primary angle-closure glaucoma (PACG) remains unclear at this time. Six...
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