Retinal vasculopathy with cerebral leukodystrophy aka cerebroretinal vasculopathy sysndrome aka hereditary endotheliopathy, retinopathy, nephropathy and stroke.
Features
Vision and memory loss
Seizures
Hemiparesis
Apraxia
Dysarthria
dysautonomia
AUT DOM
Onset in fourth decade
Death in five to ten years
Retinopathy is neovascularization of disc, retinal hemorrhage and macular edema.
Half patients have tumor like lesion with cortical sparing resembling malignancy.
Small white matter lesions may resemble MS
Caused by mutations of TREX1 genE
Inherited as aut dome frame shift mutation that encodes dna exonuclease
Retinopathy may respond to bevacizumab
Features
Vision and memory loss
Seizures
Hemiparesis
Apraxia
Dysarthria
dysautonomia
AUT DOM
Onset in fourth decade
Death in five to ten years
Retinopathy is neovascularization of disc, retinal hemorrhage and macular edema.
Half patients have tumor like lesion with cortical sparing resembling malignancy.
Small white matter lesions may resemble MS
Caused by mutations of TREX1 genE
Inherited as aut dome frame shift mutation that encodes dna exonuclease
Retinopathy may respond to bevacizumab
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