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What can we learn about age-related macular degeneration from other retinal diseases?

  1. Author:
    Zack, D. J.
    Dean, M.
    Molday, R. S.
    Nathans, J.
    Redmond, T. M.
    Stone, E. M.
    Swaroop, A.
    Valle, D.
    Weber, B. H. F.

  2. Author Address

    Zack DJ Johns Hopkins Univ, Sch Med, Dept Ophthalmol 600 N Wolfe St,809 Maumenee Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Ophthalmol Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Dept Neurosci Baltimore, MD 21287 USA NCI, Lab Genom Divers, FCRDC Frederick, MD 21702 USA NEI, LRCMB, NIH Bethesda, MD 20892 USA Univ British Columbia, Dept Biochem & Mol Biol Vancouver BC V6T 1Z3 Canada Univ Iowa, Dept Ophthalmol Iowa City, IA 52242 USA Univ Michigan, Dept Ophthalmol Ann Arbor, MI USA Univ Michigan, Dept Human Genet Ann Arbor, MI 48109 USA Bioctr, Inst Human Genet D-97074 Wuerzburg Germany
    1. Year: 1999
  2. Journal: Molecular Vision
    1. 5
    2. 24-35
    3. Pages: NIL_37-NIL_43
  4. Type of Article: Article
  1. Abstract:

    Over the last 10 years there has been an explosion of new information about the genetics of retinal disease. Over 104 genetic loci have been mapped and more than 45 disease causing genes have been identified (see RetNet). The biology of some of these genes is beginning to be understood and animal models that express some of these mutated human genes have been developed. It is likely that the increasing knowledge derived from these studies will have implications for understanding the genetics and pathogenesis of age related macular degeneration (AMD). Selected aspects of the genetics and biology of photoreceptor degeneration are presented, including the role of ABCR in Stargardt disease and its possible relationship to AMD, the role of rom-1, rds-peripherin, and CRX in various forms of photoreceptor degeneration, and the development and initial characterization of mice carrying targeted deletions of the OAT, TIMP-3, and RPE65 genes. The relevance and limitations of these studies for helping to understand AMD are discussed. [References: 47]

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