Open AccessSevere open angle glaucoma in hereditary hemorrhagic telangiectasia
Author(s) -
Kuchtey Rachel W.,
Naratadam George T.,
Kuchtey John
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.324
Subject(s) - medicine , telangiectasia , acvrl1 , glaucoma , nonsense mutation , coats' disease , open angle glaucoma , ophthalmology , inherited disease , rare disease , pathology , retinal , dermatology , mutation , disease , endoglin , missense mutation , gene , genetics , stem cell , biology , cd34
Key clinical message 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 ACVRL 1 gene.