Journal
OPHTHALMIC GENETICS
Volume 31, Issue 4, Pages 183-189Publisher
TAYLOR & FRANCIS INC
DOI: 10.3109/13816810.2010.499887
Keywords
stargardt disease; historical perspective; ABCA4 mutations; mouse models
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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.
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