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cerebroretinal vasculopathy
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
General
genetic disease of blood vessels
Database Correlations
OMIM 192315
References
OMIM :accession 192315