Work

Severe open angle glaucoma in hereditary hemorrhagic telangiectasia

Year: 2015

Type: article

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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.324

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

Institution: Vanderbilt University Medical Center

Language: English

Topic: Vascular Anomalies and Treatments

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820