title: Visual system involvement in CADASIL.
abstract: OBJECTIVE
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriolar small-vessel disease caused by Notch3 mutations. A detailed definition of the neuro-ophthalmologic spectrum of CADASIL might provide new insights in the pathophysiology of small-vessel diseases. Therefore, this study aims to precisely delineate the features and the prevalence of the visual system impairment in CADASIL.
  
  
  METHODS
  A cohort of 34 genetically confirmed CADASIL patients was enrolled in an observational cross-sectional study. Subjects underwent a complete neuro-ophthalmological evaluation. Clinical features and common cardiovascular risk factors were also considered. Data were compared with those already reported in previous studies.
  
  
  RESULTS
  Both afferent and efferent visual structures were commonly impaired in CADASIL patients. Retinal microvascular changes such as arteriolar narrowing and arteriovenous nicking, described in most patients and detected also in asymptomatic carriers, reflect the typical hemodynamic changes of CADASIL. However, less frequent findings, like early macular and lens changes, would indicate a possible further role played by susceptibility to premature aging and degeneration. Cotton wool spots and vessel occlusions were not common. Finally, eye movement abnormalities suggest that the brainstem is particularly vulnerable to damage in CADASIL.
  
  
  CONCLUSIONS
  Although no specific or prominent neuro-ophthalmologic finding can be considered as hallmark of the disease, afferent and efferent visual system abnormalities could be accounted as complementary markers to study cerebral small-vessel diseases.
authors: Department of Neurological, Neurosurgical, and Behavioural Sciences, University of Siena, Siena, Italy.
authors: Elena
authors: E
authors: Pretegiani
authors: Francesca
authors: F
authors: Rosini
authors: Maria T
authors: MT
authors: Dotti
authors: Silvia
authors: S
authors: Bianchi
authors: Antonio
authors: A
authors: Federico
authors: Alessandra
authors: A
authors: Rufa
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D046589:CADASIL / Q000235:genetics / Q000503:physiopathology*; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000150:complications; D009460:Neurologic Examination; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D014787:Vision Tests; D014785:Vision, Ocular / Q000502:physiology*; D014795:Visual Pathways / Q000503:physiopathology; D055815:Young Adult
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch
keywords: CADASIL; neuro-ophthalmology; retinal vessels; small-vessel disease