Severe open angle glaucoma in hereditary hemorrhagic telangiectasia

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...

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Detalles Bibliográficos
Autores principales: Kuchtey, Rachel W, Naratadam, George T, Kuchtey, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574785/
https://www.ncbi.nlm.nih.gov/pubmed/26401274
http://dx.doi.org/10.1002/ccr3.324
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author Kuchtey, Rachel W
Naratadam, George T
Kuchtey, John
author_facet Kuchtey, Rachel W
Naratadam, George T
Kuchtey, John
author_sort Kuchtey, Rachel W
collection PubMed
description 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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spelling pubmed-45747852015-09-23 Severe open angle glaucoma in hereditary hemorrhagic telangiectasia Kuchtey, Rachel W Naratadam, George T Kuchtey, John Clin Case Rep Case Reports 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. John Wiley & Sons, Ltd 2015-09 2015-06-18 /pmc/articles/PMC4574785/ /pubmed/26401274 http://dx.doi.org/10.1002/ccr3.324 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Kuchtey, Rachel W
Naratadam, George T
Kuchtey, John
Severe open angle glaucoma in hereditary hemorrhagic telangiectasia
title Severe open angle glaucoma in hereditary hemorrhagic telangiectasia
title_full Severe open angle glaucoma in hereditary hemorrhagic telangiectasia
title_fullStr Severe open angle glaucoma in hereditary hemorrhagic telangiectasia
title_full_unstemmed Severe open angle glaucoma in hereditary hemorrhagic telangiectasia
title_short Severe open angle glaucoma in hereditary hemorrhagic telangiectasia
title_sort severe open angle glaucoma in hereditary hemorrhagic telangiectasia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574785/
https://www.ncbi.nlm.nih.gov/pubmed/26401274
http://dx.doi.org/10.1002/ccr3.324
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