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Original Article

Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series

, , , , , & show all
Pages 12-17 | Received 25 Aug 2010, Accepted 18 Oct 2010, Published online: 21 Dec 2010
 

Abstract

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.

ACKNOWLEDGMENTS

Declaration of interest: The authors report no conflict of interest. The authors alone are responsible for the content and writing of the paper.

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