Historical evolution in the understanding of Stargardt macular dystrophy

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.

KEYWORDS::

• stargardt disease
• historical perspective
• ABCA4 mutations
• mouse models

ACKNOWLEDGMENTS

Declaration of interest: The author reports no conflict of interest. The author alone is responsible for the content and writing of the paper.