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Kuchtey RW, Naratadam GT, Kuchtey J. Severe open angle glaucoma in hereditary hemorrhagic telangiectasia. Clin Case Rep. 2015;3(9):725-7doi: 10.1002/ccr3.324.
Kuchtey, R. W., Naratadam, G. T., & Kuchtey, J. (2015). Severe open angle glaucoma in hereditary hemorrhagic telangiectasia. Clinical case reports, 3(9), 725-7. https://doi.org/10.1002/ccr3.324
Kuchtey, Rachel W, et al. "Severe open angle glaucoma in hereditary hemorrhagic telangiectasia." Clinical case reports vol. 3,9 (2015): 725-7. doi: https://doi.org/10.1002/ccr3.324
Kuchtey RW, Naratadam GT, Kuchtey J. Severe open angle glaucoma in hereditary hemorrhagic telangiectasia. Clin Case Rep. 2015 Sep;3(9):725-7. doi: 10.1002/ccr3.324. Epub 2015 Jun 18. PMID: 26401274; PMCID: PMC4574785.
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Clin Case Rep. 2015 Sep;3(9):725-7. doi: 10.1002/ccr3.324. Epub 2015 Jun 18.

Severe open angle glaucoma in hereditary hemorrhagic telangiectasia.

Clinical case reports

Rachel W Kuchtey, George T Naratadam, John Kuchtey

Affiliations

  1. Vanderbilt Eye Institute, Vanderbilt University Medical Center 2311 Pierce Avenue, Nashville, Tennessee, 37232.

PMID: 26401274 PMCID: PMC4574785 DOI: 10.1002/ccr3.324

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.

Keywords: glaucoma; hereditary hemorrhagic telangiectasia; transforming growth factor beta

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