retinal vasculopathy with cerebral leukodystrophy


retinal vasculopathy with cerebral leukodystrophy

A microvascular endotheliopathy of the retina (OMIM:192315) of middle-age onset characterised by telangiectasias, microaneurysms and retinal capillary obliteration beginning in the macula, and microinfarcts of cerebral white matter that often coalesce to form pseudotumours.
Molecular pathology
Caused by defects of TREX1, which encodes a nuclear protein with 3' exonuclease activity.