Case report highlights ocular manifestations like branch retinal vein occlusion in CADASIL, suggesting systemic vascular involvement.
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene. While it predominantly affects cerebral arterioles, emerging evidence indicates systemic vascular involvement. Ocular manifestations, particularly venous abnormalities such as branch retinal vein occlusion (BRVO), are exceedingly rare and not well characterized in CADASIL.
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Aygün et al. (2025) studied this question.
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