ABC transporters in ophthalmic disease.
ABC transporters have been implicated in a variety of human diseases. The ABCR gene and its protein have been linked to Stargardt's disease, fundus flavimaculatus, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration. The genetic and molecular pathways involved in the pathogenesis of ABCR-related ophthalmic conditions will be explored. Future diagnostic and therapeutic objectives for these diseases will also be discussed.
Westerfeld
Corey
C
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism*; D000818:Animals; D005128:Eye Diseases / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008266:Macula Lutea / Q000378:metabolism / Q000473:pathology; D008268:Macular Degeneration / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000378:metabolism
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters