Gene discovery identifies cause of common blindness diseases

Age-related macular degeneration (AMD) is the leading cause of blindness in individuals over 55 years of age in the developed world. AMD affects about 11 million Americans, 5 million of whom have become legally blind because of it. Stargardt's macular degeneration (STGD3) is an early-onset form of AMD that affects about 30,000 children and young adults in the United States. Researchers reported in this week's Nature Genetics that they have identified a gene linked to AMD and predicted the discovery will help the search for drug treatment. Currently there is no known cure (Nat Genet 2001 27(1): 89-93).

The gene, designated ELOVL4, was found to be the cause of Stargardt's macular degeneration and another form of macular degeneration called autosomal dominant macular atrophy (adMO). In both conditions, debris called lipofuscin accumulates in the retinal pigment epithelium (RPE) and results in its degeneration together with photoreceptor cells, followed by a loss ...