Article
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
Investigative ophthalmology & visual science - 3 Apr 2023
Wang Yingwei, Sun Wenmin, Xiao Xueshan, Jiang Yi, Ouyang Jiamin, Wang Junwen, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Hejtmancik J Fielding, Zhang Qingjiong
Abstract excerpt
Purpose: Specific haplotypes (LVAVA, LIVVA, and LIAVA) formed by five polymorphisms (p.L153M, p.V171I, p.A174V, p.I178V, and p.S180A in exon 3 of OPN1LW) that cause partial or complete exon skipping have been reported as unique genetic causes of high myopia with or without colorblindness. This study aimed to identify the contribution of OPN1LW to early-onset high myopia (eoHM) and the molecular basis underlying...
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