Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

We describe a 45-year-old man with biopsy proven cerebral autosomal dominan t arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This patient demonstrated unique retinal findings, including arteriole nar rowing and sheathing, irregular choroidal filling on fluorescein angiograph y, and patchy visual field loss. CADASIL is a hereditary, nonamyloid, nonat hersclerotic microangiopathy. This disorder has been mapped to chromosome 1 9 with mutations in the Notch 3 gene. Deposits of granular osmiophilic mate rial in the basal lamina of the smooth muscle cells of small vessels are co nsidered pathognomonic for CADASIL and are typically seen only on electron microscopy. Although CADASIL is a systemic vascular disease affecting the e ntire arteriole tree, we are unaware of other reports describing the retina l findings observed in our patient. (Surv Ophthalmol 45:445-448, 2001. (C) 2001 Elsevier Science Inc. All rights reserved.).