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

  1. Author:
    Shroyer, N. F.
    Lewis, R. A.
    Allikmets, R.
    Singh, N.
    Dean, M.
    Leppert, M.
    Lupski, J. R.

  2. Author Address

    Lupski JR Baylor Coll Med, Cell & Mol Biol Program Houston, TX 77030 USA Baylor Coll Med, Cell & Mol Biol Program Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet Houston, TX 77030 USA Baylor Coll Med, Dept Pediat Houston, TX 77030 USA Baylor Coll Med, Dept Med Houston, TX 77030 USA Baylor Coll Med, Dept Ophthalmol Houston, TX 77030 USA Texas Childrens Hosp Houston, TX 77030 USA NCI, Frederick Canc Res & Dev Ctr, SAIC Frederick, Intramural Res Support Program Frederick, MD 21072 USA NCI, Frederick Canc Res & Dev Ctr, Lab Genom Divers Frederick, MD 21072 USA Univ Utah, Eccles Inst Human Genet, Dept Human Genet Salt Lake City, UT 84112 USA
    1. Year: 1999
  2. Journal: Vision Research
    1. 39
    2. 15
    3. Pages: 2537-2544
  4. Type of Article: Article
  1. Abstract:

    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. (C) 1999 Published by Elsevier Science Ltd. All rights reserved. [References: 52]

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