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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Retinal abnormalities in CADASIL: a retrospective study of 18 patients.

BACKGROUND: CADASIL is an inherited small vessel disease related to Notch3 gene mutations. Aim: To report retinal findings in symptomatic CADASIL patients. METHODS: Assessment of visual acuity (VA), testing of visual fields (VF), funduscopic examination (FE), and fluorescein angiography (FA) were carried out in 18 symptomatic patients. RESULTS: No visual symptoms were presented by our patients. VA was normal in all. Ophthalmologic abnormalities were found in 8 patients. VF were normal except for a right hemianopia in one subject due to ischemic stroke. FE and FA revealed significant abnormalities in seven other subjects (mean age: 55 years; range: 39-74): nerve fibre loss (n = 4), cotton wool spots (n = 3), sheathed arteries (n = 1), and tortuous arteries (n = 1). Only one patient with both tortuous arteries and nerve fibre loss had multiple vascular risk factors, and another patient with cotton wool spots was a current smoker. DISCUSSION: FE and FA revealed silent retinal abnormalities in CADASIL patients with nerve fibre loss in 22% and cotton wool spots in 17%. The presence of these abnormal retinal findings does not seem related to the severity of the disorder but may be considered as peripheral markers of this genetic disease.[1]


  1. Retinal abnormalities in CADASIL: a retrospective study of 18 patients. Cumurciuc, R., Massin, P., Pâques, M., Krisovic, V., Gaudric, A., Bousser, M.G., Chabriat, H. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
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