Document Detail


Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series.
MedLine Citation:
PMID:  21174526     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Michele Rinaldi; Elisabetta Buscarini; Cesare Danesino; Flavia Chiosi; Antonella De Benedictis; Antonio Porcellini; Ciro Costagliola
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-12-21
Journal Detail:
Title:  Ophthalmic genetics     Volume:  -     ISSN:  1744-5094     ISO Abbreviation:  -     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Eye Clinic, Second University of Naples, Naples Italy.
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