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Updated: Jun 16, 2026
Using Retinal Imaging to Study Dementia
Published on: November 6, 2017
Retinal Vessel Dysfunction in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and
Yonatan Serlin1, Colyn Munn2,3, Elisa A Ferrante4
1Neurophysiology of Epilepsy Unit, NINDS, National Institutes of Health, Bethesda, MD.
Objectives:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common inherited cerebral small vessel disease (cSVD), involves NOTCH3-mediated microvascular pathology. As retinal health remains underexplored, serial ultra-widefield fluorescein angiography (UW-FA) was used to characterize dynamic vessel dysfunction.
Methods:
UW-FA was performed at baseline and after 13.9 ± 4.5 months. Retinal vessel permeability, blood flow, and perfusion across macular, mid-peripheral, and far-peripheral zones were quantified. Aberrant pixels exceeded healthy volunteer (HV) thresholds. Group differences, longitudinal changes, NOTCH3 variant loci, and stroke-age associations were analyzed.
Results:
Nineteen patients with genetically confirmed CADASIL (mean age 48.4 years; 52.6% female) and 9 matched HVs (mean age 44.3 years, 55.6% female) were included. Baseline far-peripheral permeability was higher in the CADASIL group vs HVs (p = 0.03; r = 0.41). At follow-up, mid-peripheral permeability increased (p = 0.003; r = 0.56) and far-peripheral permeability remained elevated (p = 0.0007; r = 0.64) in patients with CADASIL. Longitudinal analysis showed reduced blood flow and perfusion in the macula and mid-periphery and increased midperipheral permeability (all statistically significant with substantial effect sizes). Neither genotype nor stroke-onset age predicted alterations.
Discussion:
Serial UW-FA scans detect progressive, region-specific retinal vessel dysfunction in a modest-sized cohort with CADASIL, potentially serving as a surrogate marker for cSVD progression.
