Five University of Utah researchers are among a team of scientists who have discovered a gene that contributes to macular degeneration, which is the main cause of central vision damage in the eyesight of the elderly.
Mark Leppert, Nanda Singh and Andy Peiffer of the U. Institute of Human Genetics, and Paul S. Bernstein and Norman A. Zabriskie of the university's Moran Eye Center are among 13 researchers whose paper was printed Friday in the journal Science, the publication of the American Association for the Advancement of Science. The lead author is Michael Dean of the Laboratory of Genomic Diversity in Frederick, Md.In screening 167 patients with age-related macular degeneration, they found that alterations in one gene are responsible for 26 cases of Stargardt disease, a common hereditary form of macular dystrophy. Identification of the genetic defects they discovered "will permit . . . testing of high-risk individuals and may lead to earlier diagnosis," the article says.
Pinpointing the genetic defects could lead to earlier diagnosis and new strategies for prevention and therapy, the authors added.