Usher Syndrome - Treatments
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, inpiduals may benefit from the use of low vision aids and orientation and mobility training.
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.