[Genetics of macular degeneration]

Hereditary macular degeneration comprise a large group of disorders characterized by a preferential loss of central vision due to degenerative changes in the macular area of the retina. The primary causes underlying these degenerative processes are unknown. Recent approaches in molecular genetic research are most promising in providing new information for the understanding of the basic biochemical defects causing the specific macular phenotypes. Over the last few years an increasing number of hereditary degenerations has been mapped to specific chromosomal regions as a prerequisite for the final cloning of the respective disease gene. The knowledge of the function of the disease gene products will then permit further insight into the functional aspects of the normal and diseased retina. This will be most important for clinical diagnosis, management and treatment of patients with macular degenerations.