Genetics of macular dystrophies and implications for age-related macular degeneration.

@article{Klaver2003GeneticsOM,
  title={Genetics of macular dystrophies and implications for age-related macular degeneration.},
  author={Caroline C. W. Klaver and Rando L. Allikmets},
  journal={Developments in ophthalmology},
  year={2003},
  volume={37},
  pages={155-69}
}
Determining the genetic component of the age-related macular degeneration (AMD) complex trait has been the primary goal of ophthalmic genetics research for almost a decade. During this time, genes of several Mendelian traits affecting the macula have been identified. In this review, we will discuss the consequences of molecular defects in the VMD2, EFEMP1, TIMP3, ELOVL4 and ABCA4 genes, and their association with macular disease. We will also analyze our current knowledge on the implications of… CONTINUE READING