Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation

Ophthalmology. 1990 Jun;97(6):798-809. doi: 10.1016/s0161-6420(90)32508-3.

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.

Publication types

  • Case Reports

MeSH terms

  • Fluorescein Angiography
  • Fundus Oculi
  • Genes, Dominant*
  • Humans
  • Lipofuscin / metabolism
  • Macular Degeneration / complications
  • Macular Degeneration / pathology
  • Male
  • Middle Aged
  • Pedigree
  • Pigment Epithelium of Eye / ultrastructure
  • Retinal Degeneration / complications
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Sex Factors
  • Visual Acuity

Substances

  • Lipofuscin