Visual electrophysiological responses in subjects with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Objectives: To evaluate visual electrophysiological responses in subjects w ith cerebral autosomal arteriopathy with subcortical infarcts and leukoence phalopathy (CADASIL). Methods: Three subjects tone male and two females, mean age 55.3 +/- 2.9 ye ars) belonging to an Italian family already diagnosed with CADASIL through clinicopathological and genetic studies and 14 control subjects (6 males an d 8 females, mean age 52.7 +/- 3.6 years) were enrolled in the study. Flash electroretinogram (ERG), oscillatory potentials (OPs) and simultaneous rec ordings of pattern electroretinogram (PERG) and visual evoked potentials (V EPs) were assessed in all 3 subjects with CADASIL and age-matched controls. Results: Subjects with CADASIL showed: reduced ERG, OP and PERG (N35-P50, P 50-N95) amplitudes with respect to our normal limits; delayed PERG (N35, P5 0) and VEP (P100) implicit times when compared with our normal limits; and VEP (N75-P100) amplitudes and retinocortical times within our normal limits . Conclusions: Subjects with CADASIL present a dysfunction in the outer, midd le and innermost retinal layers when the index of neural conduction in the postretinal visual pathways is normal. The delay in visual cortical respons es observed in subjects with CADASIL may be ascribable to retinal impairmen t with a possible functional sparing of the postretinal visual structures. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.