Ul researchers map gene for eye disease linked to macular degeneration. The Ul team led by Drs. Edwin Stone, Associate Professor of Ophthalmology, and Val Sheffield, Associate Professor of Pediatrics, worked with colleagues from Arizona, West Virginia, Canada and Switzerland to map the gene responsible for the disorder, known as malattia leventinese, to chromosome 2. The Ul study is published in the Feb. 5 issue of the ournal Archives of Ophthalmology. This study is a significant step toward actually isolating a gene for macular degeneration.
Gene mapping is the process of identifying the general location of a gene on a specific chromosome.
Eventually, researchers hope to isolate and sequence the gene itself to learn how it works. These disorders include common conditions such as AMD as well as rarer eye dystrophies that occur at an earlier age. The genes for several of these dystrophies have been mapped previously and, in some cases, actually identified. However, none of the identified genes have been found to cause a large number of macular degeneration cases that occur late in life. A key characteristic of AMD is the presence of drusen, a random pattern of tiny yellow-white spots in the macula.