Retinal abnormalities in CADASIL: a retrospective study of 18 patients. Issue 7 (16th June 2004)

• Record Type: Journal Article
• Authors: Cumurciuc, R; Massin, P; Pâques, M; Krisovic, V; Gaudric, A; Bousser, M G; Chabriat, H
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 75:Issue 7(2004)
• Page Start: 1058
• Page End: 1060
• Publication Date: 2004-06-16
• Subjects: CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy -- FA, fluorescein angiography -- FE, funduscopic examination -- GOM, granular osmiophilic material -- VA, visual acuity -- VF, visual fields; CADASIL -- cotton wool spots -- nerve fibre deficit -- retina -- small vessel disease; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2003.024307
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : 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.