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Mutation of the Stargardt-Disease Gene (Abcr) in Age-Related Macular Degeneration

  1. Author:
    Allikmets, R.
    Shroyer, N. F.
    Singh, N.
    Seddon, J. M.
    Lewis, R. A.
    Bernstein, P. S.
    Peiffer, A.
    Zabriskie, N. A.
    Li, Y. X.
    Hutchinson, A.
    Dean, M.
    Lupski, J. R.
    Leppert, M.

  2. Author Address

    Dean M NCI LAB GENOM DIVERS FREDERICK CANC RES & DEV CTR BLDG 560 ROOM 21-18 FREDERICK, MD 21702 USA NCI LAB GENOM DIVERS FREDERICK CANC RES & DEV CTR FREDERICK, MD 21702 USA NCI INTRAMURAL RES SUPPORT PROGRAM SAIC FREDERICK FREDERICK CANC RES & DEV CTR FREDERICK, MD 21702 USA BAYLOR COLL MED DEPT MOL & HUMAN GENET HOUSTON, TX 77030 USA UNIV UTAH DEPT HUMAN GENET ECCLED INST HUMAN GENET SALT LAKE CITY, UT 84112 USA HARVARD UNIV MASSACHUSETTS EYE & EAR INFIRM SCH MED DEPT OPHTHALMOL BOSTON, MA 02114 USA BAYLOR COLL MED DEPT OPHTHALMOL HOUSTON, TX 77030 USA BAYLOR COLL MED DEPT PEDIAT HOUSTON, TX 77030 USA BAYLOR COLL MED DEPT MED HOUSTON, TX 77030 USA UNIV UTAH MORAN EYE CTR DEPT OPHTHALMOL SALT LAKE CITY, UT 84132 USA
    1. Year: 1997
  2. Journal: Science
    1. 277
    2. 5333
    3. Pages: 1805-1807
  4. Type of Article: Article
  1. Abstract:

    Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is associated both with environmental factors such as smoking and with genetic factors. Here, 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular dystrophy. Thirteen different AMD-associated alterations, both deletions and amino acid substitutions, were found in one allele of ABCR in 26 patients (16%). Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy. [References: 25]

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