cerebroretinal vasculopathy
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Pathology
- microvascular endotheliopathy
- microaneurysms
- retinal capillary obliteration starting in the macula
- diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors
Genetics
- associated with defects in TREX1
Clinical manifestations
- middle-age onset
- retinal vasculopathy
- telangiectasias