Stargardt macular dystrophy is a genetic disease that causes juvenile blindness. In the most common form of the disease, a mutation occurs in the ABCA4 gene, which encodes for a protein that is expressed in the eye's photoreceptor cells and is required for the removal of lipofuscin, a toxic byproduct of the visual metabolic cycle.
In patients with mutant ABCA4, lipofuscin accumulates in the photoreceptors, leading to retinal degeneration. Replacement of the defective ABCA4 gene could rescue the photoreceptors and provide a cure for Stargardt's disease.