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Related Concept Videos

Visual System01:26

Visual System

Light enters the eye through the cornea, a transparent, dome-shaped surface covering the surface of the eyeball that helps to direct and focus incoming light. This light is then channeled toward the pupil, an adjustable opening whose size is controlled by the iris. The iris, a pigmented muscle, regulates the amount of light entering the eye by contracting or dilating the pupil, thereby ensuring optimal light levels for clear vision.
Once through the pupil, the light passes through the lens, a...
Visual Agnosia01:12

Visual Agnosia

Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round end"...
Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...

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A Gaze-Contingent Display Framework for Perceptual Learning Research with Simulated Central Vision Loss
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A Gaze-Contingent Display Framework for Perceptual Learning Research with Simulated Central Vision Loss

Published on: April 11, 2025

Visual system involvement in CADASIL.

Elena Pretegiani1, Francesca Rosini, Maria T Dotti

  • 1Department of Neurological, Neurosurgical, and Behavioural Sciences, University of Siena, Siena, Italy.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|May 3, 2013
PubMed
Summary
This summary is machine-generated.

Visual system impairments are common in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). These neuro-ophthalmologic findings offer insights into small vessel disease progression.

Keywords:
CADASILneuro-ophthalmologyretinal vesselssmall-vessel disease

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Last Updated: May 11, 2026

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Area of Science:

  • Neurology
  • Ophthalmology
  • Genetics

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small-vessel disease.
  • It is caused by Notch3 mutations, affecting brain vasculature.

Purpose of the Study:

  • To define the neuro-ophthalmologic spectrum in CADASIL.
  • To determine the prevalence of visual system impairment in CADASIL patients.

Main Methods:

  • Observational cross-sectional study of 34 genetically confirmed CADASIL patients.
  • Comprehensive neuro-ophthalmologic evaluations were performed.
  • Clinical data and cardiovascular risk factors were analyzed.

Main Results:

  • Afferent and efferent visual pathways are frequently affected in CADASIL.
  • Retinal microvascular changes (narrowing, nicking) are common, even in asymptomatic carriers.
  • Eye movement abnormalities indicate brainstem vulnerability; macular and lens changes suggest premature aging.

Conclusions:

  • No single neuro-ophthalmologic finding is pathognomonic for CADASIL.
  • Visual system abnormalities serve as complementary markers for studying cerebral small-vessel diseases.