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Stargardt's Disease

Stargardt's Disease or Stargardt's Macular Degeneration is an inherited retinal condition that primarily affects the macula - a small area of the retina responsible for central vision. There are several subtypes of Stargardt's disease and it is the most the common juvenile macular dystrophy. Typically, patient's with Stargardt's disease presents in childhood with decreased central vision. This may manifest as difficulty seeing at distance, often in class, and cannot be corrected by glasses. Stargardt's is a progressive disease and is inherited in an autosomal recessive manner. Most patients with Stargardt's will have mutations in ABCA4 - a gene involved with Vitamin A metabolism. For this reason, patients with Stargardt's should not take high dose vitamin A as protective treatment for their condition. Normal dietary vitamin A however, should be continued. It is interesting to note that a small portion of Stargardt's patients will exhibit "foveal-sparing" - this means that the fovea, the center of the macula which is responsible for the clearest portion of our central vision, is unaffected. As such, these patients will keep their central vision for longer than patients with typical Stargardt's disease.

Excitingly, gene therapy for ABCA4 mutations has been under investigation for some time now. Initial animal studies showed positive results, and in 2011-2012 the first human clinical trials of gene therapy for Stargardt's disease were initiated! 

For more information visit:

http://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration