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Retinal abnormalities in CADASIL: a retrospective study of 18 patients
  1. R Cumurciuc1,
  2. P Massin2,
  3. M Pâques2,
  4. V Krisovic2,
  5. A Gaudric2,
  6. M G Bousser1,
  7. H Chabriat1
  1. 1Department of Neurology, Lariboisiere Hospital, 2, rue A Paré, 75010 Paris, France
  2. 2Department of Ophthalmology, Lariboisiere Hospital, 2, rue A Paré, 75010 Paris, France
  1. Correspondence to:
 Professor H Chabriat
 Department of Neurology, Lariboisiere Hospital, 2, rue Ambroise Paré, 75010 Paris, France; hugues.chabriatlrb.ap-hop-paris.fr

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.

  • 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

https://doi.org/10.1136/jnnp.2003.024307

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    Footnotes

    • Competing interests: none declared