Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation.
The authors report the first clinicopathologic study of autosomal-dominant fundus flavimaculatus with late-onset atrophic macular degeneration in a 62-year-old man. Results of histopathologic examination disclosed the retinal pigment epithelium (RPE) to be distended by a periodic acid-Schiff (PAS)-positive, acid mucopolysaccharide-negative material. Transmission electron microscopy showed marked accumulation of lipofuscin and melanolipofuscin granules within the RPE. The different modes of genetic transmission and ultrastructural heterogeneity suggest that fundus flavimaculatus is a clinical syndrome representing several genetically and mechanistically distinct disorders whose common end-stage is a topographically similar accumulation of lipofuscin.
Lopez
P F
PF
Eye Pathology Laboratory, Johns Hopkins Hospital, Baltimore, MD 21205.
Maumenee
I H
IH
de la Cruz
Z
Z
Green
W R
WR
D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005799:Genes, Dominant; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism; D008268:Macular Degeneration / Q000150:complications / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000648:ultrastructure; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012737:Sex Factors; D014792:Visual Acuity
D008062:Lipofuscin