Narrator: (Animation) In Stargardt Disease, a defective protein in photoreceptors results in the accumulation of lipofuscin in retinal pigment epithelial or RPE cells as photoreceptors are shed daily. Lipofuscin is composed of material that is very toxic to RPE cells. The RPE cells become engorged with this toxic material and over time begin to shrink and die. Since RPE cells are important for the survival of photoreceptors, when RPE cells are lost, so too are the photoreceptors that lie directly above them, and this leads to blindness.
Steven Nusinowitz: If you were patient with Stargardt’s disease and you were looking at my face, if we were early in the disease course my face might appear quite blurry and my features may not be recognizable. Whereas the peripheral parts of the retina would be perfectly okay. In later course of the disease, where you are actually losing a lot of cells in the macular region, my face would be entirely black. Again, peripheral parts of the retina would be fine. In order to see my face patients would typically look slightly askew so that my face falls on parts of the retina that are not affected by the Stargardt’s gene.
Steven Nusinowitz, PhD
Jules Stein Eye Institute