ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

Nat Genet. 2000 Jul;25(3):257-8. doi: 10.1038/77004.

Abstract

Mutations in the gene encoding ABCR are responsible for Stargardt macular dystrophy. Here we show by immunofluorescence microscopy and western-blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. Our results suggest that the loss in central vision experienced by Stargardt patients arises directly from ABCR-mediated foveal cone degeneration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / biosynthesis*
  • ATP-Binding Cassette Transporters / physiology
  • Fovea Centralis / metabolism*
  • Fovea Centralis / pathology
  • Humans
  • Macular Degeneration / metabolism*
  • Macular Degeneration / pathology
  • Retina / metabolism
  • Retina / pathology
  • Retinal Cone Photoreceptor Cells / metabolism*
  • Retinal Cone Photoreceptor Cells / pathology
  • Retinal Rod Photoreceptor Cells / metabolism*
  • Retinal Rod Photoreceptor Cells / pathology
  • Rhodopsin / metabolism
  • Rod Cell Outer Segment / metabolism
  • Rod Cell Outer Segment / pathology
  • Rod Opsins / metabolism

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • Rod Opsins
  • Rhodopsin