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 dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This patient demonstrated unique retinal findings, including arteriole narrowing and sheathing, irregular choroidal filling on fluorescein angiography, and patchy visual field loss. CADASIL is a hereditary, nonamyloid, nonathersclerotic microangiopathy. This disorder has been mapped to chromosome 19 with mutations in the Notch 3 gene. Deposits of granular osmiophilic material in the basal lamina of the smooth muscle cells of small vessels are considered pathognomonic for CADASIL and are typically seen only on electron microscopy. Although CADASIL is a systemic vascular disease affecting the entire arteriole tree, we are unaware of other reports describing the retinal findings observed in our patient.
Robinson
W
W
Neuro-Visual Unit, Michigan State University School of Medicine, Ann Arbor, MI, USA.
Galetta
S L
SL
McCluskey
L
L
Forman
M S
MS
Balcer
L J
LJ
D001706:Biopsy; D002540:Cerebral Cortex / Q000473:pathology; D002544:Cerebral Infarction / Q000150:complications* / Q000175:diagnosis; D015161:Dementia, Multi-Infarct / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D012160:Retina / Q000473:pathology*; D012720:Severity of Illness Index; D012867:Skin / Q000648:ultrastructure