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Published on: October 21, 2014
Stargardt's disease and the ABCR gene
Corey Westerfeld1, Shizuo Mukai
1Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. corey_westerfeld@meei.harvard.edu
Abstract:
Stargardt's disease is an autosomal recessive form of juvenile macular degeneration. The clinical presentation, relevant ancillary tests, and classic histologic features will be reviewed. The role of genetic mutations in the pathophysiology of Stargardt's disease will also be explored. Stargardt's disease is caused by mutations in the ABCR (ABCA4) gene on chromosome 1. Mutations in this gene have also been attributed to some cases of cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration. The genetic and molecular pathways that produce Stargardt's disease will be discussed. Future diagnostic and therapeutic objectives for this visually disabling condition will also be presented.
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