Researchers at the University of Utah have developed genetically engineered mice that closely mimic what happens to humans who suffer from the juvenile, or dry, form of age-related macular degeneration. The findings are reported in the March 4, 2005 Early Online Edition of the Proceedings of the National Academy of Sciences (www.pnas.org). The mice express a mutant ELOV4 gene that causes humans to develop from the juvenile form of macular degeneration known as Stargardt disease. The gene was discovered by the same team of University of Utah scientists in 2001. The mutation prevents retinal pigment epithelium cells (RPE) from disposing of cellular waste know as lipofuscin (including the fluorophore A2E).
