title: Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation.
abstract: 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.
authors.affiliation: Eye Pathology Laboratory, Johns Hopkins Hospital, Baltimore, MD 21205.
authors.forename: P F
authors.initials: PF
authors.lastname: Lopez
authors.forename: I H
authors.initials: IH
authors.lastname: Maumenee
authors.forename: Z
authors.initials: Z
authors.lastname: de la Cruz
authors.forename: W R
authors.initials: WR
authors.lastname: Green
mesh_terms: 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
chemical_list: D008062:Lipofuscin