Document Detail

Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series.
MedLine Citation:
PMID:  21174526     Owner:  NLM     Status:  Publisher    
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.
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:  -    
Eye Clinic, Second University of Naples, Naples Italy.
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