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Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma

British Journal of Ophthalmology Jun 24, 2021

Li X, Sun W, Xiao X, et al. - Researchers sought to evaluate the contribution of biallelic CPAMD8 variants in patients with different forms of glaucoma, particularly primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG), based on a systematic analysis of exome sequencing (ES). Multiple bioinformatics analyses were used to identify potentially pathogenic CPAMD8 variants from the ES data of 5,307 individuals with various eye conditions. One thousand two hundred twenty-one of the 5,307 individuals had various forms of primary glaucoma. The findings of this study not only add to the evidence supporting the link between biallelic CPAMD8 variants and juvenile open-angle glaucoma but also suggest that biallelic CPAMD8 variants may be linked to POAG and PACG.

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