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The authors describe a novel hereditary autosomal dominant condition affecting both retinal and cerebral vessels and characterized by infantile hemiparesis, migraine with aura, retinal hemorrhage, retinal arterial tortuosity, and leukoenceph alopathy with dilation of perivascular spaces and microbleeds on brain MRI. Investigation of additional families should help to map the gene and to better categorize the spectrum of hereditary cerebroretinal small vessel diseases. |
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