Novel ophthalmic pathology in an autopsy case of autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Autosomal dominant retinocerebral vasculopathy with cerebral leukodystrophy (RVCL) is a rare neurovascular syndrome causing retinal and central nervous system vasculopathy often recognized as contrast-enhancing white matter changes or pseudotumors on imaging. Heterozygous frameshift mutations in the 3-prime repair exonuclease 1 gene have been identified in families affected by RVCL. Variable light microscopic findings and a characteristic ultrastructural appearance of the vasculature in the brain have been reported. Description of the ophthalmic histopathology is exceedingly rare. Here, we report previously undescribed bilateral eye findings in a patient diagnosed with RVCL. The ophthalmic pathology includes thickening and reduplication of the retinal capillary basal lamina demonstrated by electron microscopy. These findings expand what is known about this disease and help further delineate its phenotype.
Department of Anatomic Pathology, Cleveland Clinic, Cleveland, OH 44195, USA.
Aaron M
AM
Gruver
Lynn
L
Schoenfield
Joshua F
JF
Coleman
Rula
R
Hajj-Ali
E Rene
ER
Rodriguez
Carmela D
CD
Tan
D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D018450:Disease Progression; D017809:Fatal Outcome; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000150:complications / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D031300:Retinal Vasculitis / Q000150:complications / Q000473:pathology*; D017211:Treatment Failure