Reduction of optic nerve fiber layer thickness in CADASIL

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.