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Treatments » Stargardt Disease

In 1997, Foundation researchers isolated the gene for Stargardt disease. The ABCR gene produces a protein involved in energy transport to and from photoreceptor cells in the retina. Mutations in the ABCR gene, which cause Stargardt disease, produce a dysfunctional protein that cannot perform its transport function. As a result, photoreceptor cells degenerate and vision loss occurs. The discovery of the ABCR gene now allows researchers to study the underlying biochemical interactions that result from mutations in this gene. Understanding how genetic mutations lead to retinal degeneration is critical for the development of experimental therapies. Although there is currently no treatment for Stargardt disease, individuals may benefit from the use of low vision aids and orientation and mobility training.

Related Diseases

See also: Age related macular degeneration

The Foundation Fighting Blindness is a research foundation dedicated to finding the causes, treatments and cures for retinal degenerative diseases like retinitis pigmentosa (RP), Usher syndrome and macular degeneration.

Drug Shows Promise for Treatment of Stargardt Disease

Results from a study of fenretinide indicate that it may be a candidate for treatment of Stargardt disease.

The study was conducted by researchers from Sytera, Inc., a start-up biopharmaceutical company in La Jolla, California, and The Jules Stein Eye Institute, University of California at Los Angeles (UCLA). The study was funded, in part, by a grant from the Foundation.

Treatments - Stargardt Disease
Treatments - Stargardt Disease

The Foundation Fighting Blindness is supporting very promising research to find treatments and cures for the disease.

At this time there are no treatments for Stargardt disease. However, The Foundation Fighting Blindness is supporting very promising research to find treatments and cures for the disease. Foundation supported researchers were part of the efforts to discover the gene causing Stargardt disease. Discovery of this gene—originally called ABCR but now known as the ABCA4 gene—next led FFB-supported researchers to genetically engineer a mouse with Stargardt disease. The creation of the rodent model allows researchers to better understand how the ABCA4 gene functions in the retina and how mutations in the gene cause vision loss. With this knowledge, Foundation researchers are developing experimental therapies that address the underlying genetic cause of Stargardt disease.

 
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