Rinaldi Michele, Buscarini Elisabetta, Danesino Cesare, Chiosi Flavia, De Benedictis Antonella, Porcellini Antonio, Costagliola Ciro
Eye Clinic, Second University of Naples, Naples, Italy.
Ophthalmic Genet. 2011 Mar;32(1):12-7. doi: 10.3109/13816810.2010.535891. Epub 2010 Dec 21.
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.
We describe the ocular abnormalities in 8 patients from a pedigree with hereditary hemorrhagic telangiectasia. This article also reviews and discusses the relevant literature.
Five patients (62.5%) had conjunctival telangiectasias and 3 (37.5%) retinal abnormalities, consisting mainly of choriocapillaris atrophy.
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.
遗传性出血性毛细血管扩张症（伦杜-奥斯勒-韦伯病）是一种常染色体显性血管疾病，其特征为严重且反复发作的鼻出血、黏膜皮肤毛细血管扩张，在某些情况下还伴有危及生命的内脏动静脉畸形。眼部异常包括结膜毛细血管扩张、动静脉瘘、血管扩张、静脉扩张和血管瘤。
我们描述了来自一个遗传性出血性毛细血管扩张症家系的8例患者的眼部异常情况。本文还回顾并讨论了相关文献。
5例患者（62.5%）有结膜毛细血管扩张，3例（37.5%）有视网膜异常，主要为脉络膜毛细血管萎缩。
据我们所知，这是首篇描述同一遗传性出血性毛细血管扩张症家系患者出现脉络膜毛细血管萎缩情况的报告。
