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

Young, Terri L.; Whisenhunt, Kristina N.; Jin, Jing; LaMartina, Sarah M.; Martin, Sean M.; Souma, Tomokazu; Limviphuvadh, Vachiranee; Suri, Fatemeh

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 ei...

Date: 2020 | Origin: Estudo Geral - Universidade de Coimbra

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