Human Genetics

, Volume 104, Issue 6, pp 449–453

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

Authors

  • R. Allikmets
    • Intramural Research Support Program, SAIC-Frederick, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, MD 21702-1201, USA
  • Johanna M. Seddon
    • Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
  • Paul S. Bernstein
    • Department of Ophthalmology, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA
  • A. Hutchinson
    • Intramural Research Support Program, SAIC-Frederick, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, MD 21702-1201, USA
  • Andrew Atkinson
    • Laboratory of Genomic Diversity, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, MD 21702-1201, USA
  • Sanjay Sharma
    • Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
  • Bernard Gerrard
    • Intramural Research Support Program, SAIC-Frederick, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, MD 21702-1201, USA
  • W. Li
    • Department of Human Genetics, Merck Research Laboratories, West Point, PA 19486, USA
  • Michael L. Metzker
    • Department of Human Genetics, Merck Research Laboratories, West Point, PA 19486, USA
  • Claes Wadelius
    • Department of Genetics and Pathology, Unit of Clinical Genetics, University Hospital, S-751 85 Uppsala, Sweden
  • C. Thomas Caskey
    • Department of Human Genetics, Merck Research Laboratories, West Point, PA 19486, USA
  • Michael Dean
    • Laboratory of Genomic Diversity, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, MD 21702-1201, USA
  • Konstantin Petrukhin
    • Department of Human Genetics, Merck Research Laboratories, West Point, PA 19486, USA
Rapid communication

DOI: 10.1007/s004390050986

Cite this article as:
Allikmets, R., Seddon, J., Bernstein, P. et al. Hum Genet (1999) 104: 449. doi:10.1007/s004390050986

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.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999