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The authors carried out genetic analyses and visual electrophysiologic evaluations in six asymptomatic sons and daughters of patients with symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Three subjects showed Notch3 Cys146Tyr missense mutation and a dysfunction of the outer, middle, and innermost retinal layers, with normal neural conduction in postretinal visual pathways, whereas in the remaining subjects without genetic mutations, no electrophysiologic abnormalities were found. An early vascular retinal impairment in CADASIL may precede the onset of clinical manifestations.

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Our study aims to assess nerve fiber layer (NFL) thickness in patients affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Six CADASIL patients (mean age 42 +/- 16 years, best corrected visual acuity >20/20 with refractive error between +/-3 diopters, intraocular pressure <18 mmHg) were enrolled. They were compared with 16 age-matched controls. In all subjects enrolled, NFL thickness was measured by optical coherence tomography (OCT). Three different measurements were taken in each quadrant (superior, inferior, nasal, and temporal) and averaged. The data from all quadrants (12 values averaged) were identified as NFL overall. In CADASIL eyes there was a reduction of NFL thickness in each quadrant and in the NFL overall evaluation compared with the values observed in control eyes. Our results suggest that in CADASIL patients there is a reduction of NFL thickness evaluated by OCT. This morphological abnormality could be ascribed to an impairment of the retinal vascular supply leading to a global neuroretinal involvement. These anatomical changes may precede the onset of the neurological clinical manifestations.

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Patients with MA presented asymmetries in VEP responses not related to visual aura or to headache side during the pain-free phase. These abnormalities may be ascribed to abnormal visual information processing, resulting in a different cortical activation when both foveal and parafoveal stimuli are used.