Severe open angle glaucoma in hereditary hemorrhagic telangiectasia

descriptionPublicationkeyboard_double_arrow_right Article 18 Jun 2015 English Publisher:WileyJournal:Clinical Case Reports, volume 3, pages 725-727 (issn: 2050-0904, eissn: 2050-0904,

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Authors: Kuchtey, Rachel W; Naratadam, George T; Kuchtey, John;

doi: 10.1002/ccr3.324

pmid: 26401274

pmc: PMC4574785

Severe open angle glaucoma in hereditary hemorrhagic telangiectasia

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Abstract

Key clinical messageHereditary 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.

Related Organizations

Vanderbilt University Medical Center
United States

Keywords

Case Reports

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