Retinal Manifestations of Cerebroretinal Vasculopathy

We report a case of a 42-year-old woman who presented with a slowly progressive decrease in visual acuity and memory loss. Dilated fundus exam showed cotton-wool spots and parafoveal telangiectasias. Fluorescein angiography revealed foveal capillary nonperfusion, which was very similar to that of her father, who passed away from a similar illness. These two patients share the same clinical, angiographic and pathologic features as a pedigree that had autosomal dominant cerebroretinal vasculopathy. Hereditary small vessel disease of the brain and retina is a spectrum of different entities that has many manifestations in end organs outside of the central nervous system.