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Article

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.

Ophthalmology - 1 Jun 2020

Siggs Owen M, Souzeau Emmanuelle, Taranath Deepa A, Dubowsky Andrew, Chappell Angela, Zhou Tiger, Javadiyan Shari, Nicholl Jillian, Kearns Lisa S, Staffieri Sandra E, Narita Andrew, Smith James E H, Pater John, Hewitt Alex W, Ruddle Jonathan B, Elder James E, Mackey David A, Burdon Kathryn P, Craig Jamie E

Abstract excerpt

PURPOSE: Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. We sought to assess the contribution of biallelic CPAMD8 variants to childhood and juvenile open-angle glaucoma. DESIGN: Retrospective, multicenter case series....

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PMID: 32085876
DOI: 10.1016/j.ophtha.2019.12.024

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