Stargardt's disease and the ABCR gene

Seminars in Ophthalmology
Corey Westerfeld, Shizuo Mukai

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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Citations

Jul 5, 2011·Biochemistry·Yaroslav TsybovskyKrzysztof Palczewski
Jul 28, 2009·Journal of Lipid Research·Dragana D BojanicPeter A Edwards
Jul 14, 2018·The Journal of Biological Chemistry·Andrew TsinJeffery Grigsby
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Aug 16, 2014·Retina·Xiaoyan PengRichard H Roe
May 26, 2020·International Ophthalmology·Tianchang TaoGenlin Li
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Jul 17, 2010·Progress in Lipid Research·Robert S Molday, Kang Zhang

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