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Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

  1. Author:
    Allikmets, R.
    Seddon, J. M.
    Bernstein, P. S.
    Hutchinson, A.
    Atkinson, A.
    Sharma, S.
    Gerrard, B.
    Li, W.
    Metzker, M. L.
    Wadelius, C.
    Caskey, C. T.
    Dean, M.
    Petrukhin, K.

  2. Author Address

    Allikmets R Columbia Univ, Dept Ophthalmol 2nd Floor,630 W 168th St New York, NY 10032 USA Columbia Univ, Dept Ophthalmol New York, NY 10032 USA Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol Boston, MA 02114 USA Univ Utah, Moran Eye Ctr, Dept Ophthalmol Salt Lake City, UT 84132 USA Merck Res Labs, Dept Human Genet W Point, PA 19486 USA Univ Uppsala Hosp, Clin Genet Unit, Dept Genet & Pathol S-75185 Uppsala Sweden NCI, Frederick Canc Res & Dev Ctr, Lab Gen Divers Frederick, MD 21702 USA NCI, Frederick Canc Res & Dev Ctr, SAIC, Intramural Res Support Program Frederick, MD 21702 USA Columbia Univ, Dept Ophthalmol New York, NY 10027 USA
    1. Year: 1999
  2. Journal: Human Genetics
    1. 104
    2. 6
    3. Pages: 449-453
  4. Type of Article: Article
  1. Abstract:

    Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); it is associated with degeneration of the RPE and overlying photoreceptors. Recently, we cloned the gene bestrophin, which is responsible for the disease, and identified a number of causative mutations in families with VMD2. Here, we report that the analysis of bestrophin in a collection of 259 age-related macular degeneration (AMD) patients provides evidence that mutations in the Best disease gene do not play a significant role in the predisposition of individuals to AMD. However, our results suggest that, in addition to Best disease, mutations within the bestrophin gene could be responsible for other forms of maculopathy with phenotypic characteristics similar to Best disease and for other diseases not included in the VMD category. [References: 23]

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