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Article

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

7 Oct 2020

Abstract excerpt

Purpose: Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK haploinsufficiency accounts for 5% of PCG in diverse populations, with low penetrance explained by variable dysgenesis of Schlemm's canal (SC) in mice. We report...

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PMID: 33027505
DOI: 10.1167/iovs.61.12.6

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