title: Severe open angle glaucoma in hereditary hemorrhagic telangiectasia.
abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease. Conjunctival telangiectasias and retinal vascular malformations are known ocular manifestations. We report here the first case of open angle glaucoma in a patient with HHT caused by a nonsense mutation, C471X in the ACVRL1 gene.
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center 2311 Pierce Avenue, Nashville, Tennessee, 37232.
authors.forename: Rachel W
authors.initials: RW
authors.lastname: Kuchtey
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center 2311 Pierce Avenue, Nashville, Tennessee, 37232.
authors.forename: George T
authors.initials: GT
authors.lastname: Naratadam
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center 2311 Pierce Avenue, Nashville, Tennessee, 37232.
authors.forename: John
authors.initials: J
authors.lastname: Kuchtey
keywords: glaucoma; hereditary hemorrhagic telangiectasia; transforming growth factor beta