The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial

Vision Res. 1999 Jul;39(15):2537-44. doi: 10.1016/s0042-6989(99)00037-1.


The ABCR gene encodes a rod photoreceptor specific ATP-binding cassette transporter. Mutations in ABCR are associated with at least four inherited retinal dystrophies: Stargardt disease, Fundus Flavimaculatus, cone-rod dystrophy, and retinitis pigmentosa. A statistically significant increase in heterozygous ABCR alterations has been identified in patients with age-related macular degeneration (AMD). A pedigree is described which manifests both Stargardt disease and AMD in which an ABCR mutation cosegregates with both disease phenotypes. These data from this case report support the hypothesis that ABCR is a dominant susceptibility locus for AMD. Recent work regarding ABCR is reviewed and a model is presented in which decreased ABCR function correlates with severity of retinal disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Aged
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Models, Genetic
  • Multifactorial Inheritance
  • Retina / pathology
  • Retinal Rod Photoreceptor Cells / metabolism*


  • ATP-Binding Cassette Transporters