Stargardt's disease and the ABCR gene.
Stargardt's disease is an autosomal recessive form of juvenile macular degeneration. The clinical presentation, relevant ancillary tests, and classic histologic features will be reviewed. The role of genetic mutations in the pathophysiology of Stargardt's disease will also be explored. Stargardt's disease is caused by mutations in the ABCR (ABCA4) gene on chromosome 1. Mutations in this gene have also been attributed to some cases of cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration. The genetic and molecular pathways that produce Stargardt's disease will be discussed. Future diagnostic and therapeutic objectives for this visually disabling condition will also be presented.
Westerfeld
Corey
C
Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. corey_westerfeld@meei.harvard.edu
Mukai
Shizuo
S
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters