Historical evolution in the understanding of Stargardt macular dystrophy
Gerald Allen Fishman
Abstract
Gerald Allen Fishman
Abstract
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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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.
Key concepts: Stargardt disease, ABCA4, Macular dystrophy, Fundus (uterus), Ophthalmology, Optometry, Lipofuscin, Dystrophy