| Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series. | |
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MedLine Citation:
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PMID: 21174526 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Background: Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, muco-cutaneous telangiectasias, and, in some cases, life-threatening visceral arteriovenous malformations. Ocular abnormalities include conjunctival telangiectasia, arteriovenous fistula, angiectasia, phlebectasia, and angioma. Material and Methods: We describe the ocular abnormalities in 8 patients from a pedigree with hereditary hemorrhagic telangiectasia. This article also reviews and discusses the relevant literature. Results: Five patients (62.5%) had conjunctival telangiectasias and 3 (37.5%) retinal abnormalities, consisting mainly of choriocapillaris atrophy. Conclusions: To the best of our knowledge, this is the first report describing the occurrence of choriocapillaris atrophy in patients affected by hereditary hemorrhagic telangiectasia and belonging to the same pedigree. |
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Authors:
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Michele Rinaldi; Elisabetta Buscarini; Cesare Danesino; Flavia Chiosi; Antonella De Benedictis; Antonio Porcellini; Ciro Costagliola |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-12-21 |
Journal Detail:
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Title: Ophthalmic genetics Volume: - ISSN: 1744-5094 ISO Abbreviation: - Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-12-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Eye Clinic, Second University of Naples, Naples Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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