MUTATION OF THE STARGARDT-DISEASE GENE (ABCR) IN AGE-RELATED MACULAR DEGENERATION

Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is associated both wit h environmental factors such as smoking and with genetic factors. Here , 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular dystrophy. Thirteen different AMD-associated alterations, both deletions and amin o acid substitutions, were found in one allele of ABCR in 26 patients (16%). Identification of ABCR alterations will permit presymptomatic t esting of high-risk individuals and may lead to earlier diagnosis of A MD and to new strategies for prevention and therapy.