Simultaneous onset of visual dysfunction and cerebral infarction in a young patient with CADASIL: a case report

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small arteriolar disease caused by mutations in the NOTCH3 gene. Acute vision loss is not commonly associated with the classical phenotype of CADASIL. We report a rare CADASIL case with the simultaneous onset of visual dysfunction and cerebral infarction in a young male. The patient was confirmed to have cerebral infarction on magnetic resonance imaging. Symptoms of acute vision loss occurred simultaneously due to optic nerve and retinal ischemia. Consequently, this case provides novel perspectives on the relationship between ocular hemodynamics and inherited cerebral small vessel disease. It is crucial to heighten awareness that presentation of non-arteritic anterior ischemic optic neuropathy (NAION) and retinal hypoperfusion in a young patient without any other risk factors necessitates consideration of secondary causes. These manifestations could represent a potential presentation of CADASIL.