title: The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.
abstract: The gene ABCA4 encodes the rod and cone photoreceptor Rim protein, which is a transmembrane transporter of vitamin A intermediates. ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod degeneration, and retinitis pigmentosa, and likely increase the risk of developing age-related macular degeneration (AMD). The purpose of this mini-review is to highlight the advances in our understanding of Stargardt disease and the ABCA4 gene from the first description of the disease by Karl Stargardt in 1909 to gene discovery by Allikmets and colleagues in 1997. The knockout mouse model by Mata and co-workers has provided crucial pathophysiological information that has led to new ideas regarding treatment possibilities. These hypotheses were tested by Radu and colleagues in the mouse and shown to be efficacious.
authors.affiliation: Department of Ophthalmology, McGill University, Montreal Children's Hospital, 2300 Tupper, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Robert K
authors.initials: RK
authors.lastname: Koenekoop
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D004195:Disease Models, Animal; D005654:Fundus Oculi; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012162:Retinal Degeneration / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012374:Rod Cell Outer Segment / Q000378:metabolism
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; C512841:Abca4 protein, mouse