Historical evolution in the understanding of Stargardt macular dystrophy.
The historical evolution in the understanding of Stargardt macular dystrophy (fundus flavimaculatus) from the initial description by Karl Stargardt, identification of mutations in the ABCA4 gene, to the development of a mouse model for the human disease, is described. Highlighted are the studies by several investigators whose contributions illuminated the path to our current understanding of Stargardt disease and helped to advance progress toward future therapeutic trials for the unfortunate group of patients afflicted with this disease.
Fishman
Gerald Allen
GA
Department of Ophthalmology and Visual Sciences, University of Illinois Eye and Ear Infirmary, Chicago, Illinois 60612, USA. gerafish@uic.edu
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000818:Animals; D004195:Disease Models, Animal; D005858:Germany; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital / Q000235:genetics / Q000266:history; D009154:Mutation / Q000235:genetics; D000080362:Stargardt Disease
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters