Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series
| Autor: | Ciro Costagliola, Antonella De Benedictis, Cesare Danesino, Flavia Chiosi, Elisabetta Buscarini, Antonio Porcellini, Michele Rinaldi |
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| Přispěvatelé: | Rinaldi, M., Buscarini, E., Danesino, C., Chiosi, F., De Benedictis, A., Porcellini, Antonio, Costagliola, C., Rinaldi, Michele, Buscarini, E, Danesino, C, Chiosi, F, De Benedictis, A, Porcellini, A |
| Rok vydání: | 2010 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Activin Receptors Type II Choriocapillaris atrophy Visual Acuity Arteriovenous fistula Conjunctival Diseases Arteriovenous Malformations Young Adult retina abnormalitie Retinal Diseases bloody tear medicine Humans conjunctival telengectasia In patient Fluorescein Angiography Telangiectasia Genetics (clinical) Aged Aged 80 and over medicine.diagnostic_test business.industry Angiectasia Middle Aged Fluorescein angiography medicine.disease Rendu-Osler-Weber disease Pedigree Ophthalmology Epistaxis Hereditary hemorrhagic telangiectasia Pediatrics Perinatology and Child Health Vascular Disorder Female Telangiectasia Hereditary Hemorrhagic choriocapillaris atrophy medicine.symptom business Tomography Optical Coherence |
| Zdroj: | Ophthalmic Genetics. 32:12-17 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.3109/13816810.2010.535891 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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