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Severe open angle glaucoma in hereditary hemorrhagic telangiectasia
Rachel W Kuchtey1, George T Naratadam1, John Kuchtey1
1Vanderbilt Eye Institute, Vanderbilt University Medical Center 2311 Pierce Avenue, Nashville, Tennessee, 37232.
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.
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.
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