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Stargardt Disease

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Overview

Stargardt disease is a genetic disorder that affects the macula, the small, central portion of the retina, leading to a progressive blurring of central vision over time. Vision loss typically begins during childhood or adolescence, with symptoms similar to age-related macular degeneration (AMD); in fact, since the symptoms begin at a younger age, Stargardt disease is sometimes called “juvenile macular degeneration.” Taking its name from Karl Stargardt, the German ophthalmologist who described the disease in the early twentieth century, the disorder affects somewhere between 1 in 8000 to 1 in 10,000 individuals.[1]

In most cases of the disease, the gene ABCA4 is mutated, while in a minority of cases it is the gene ELOVL4. Both are responsible for making important proteins that play a role in phototransduction, the process whereby incoming light is converted into electrical signals that are eventually interpreted by the brain. When ABCA4 is mutated, the protein it controls is no longer able to effectively remove a toxic substance called lipofuscin from the retinal pigment epithelial (RPE) cells. Lipofuscin builds up over time and is a natural by-product of phototransduction; when it is not cleared from the RPE cells, those cells are no longer able to provide support and nourishment to the photoreceptors cells, which absorb light and are the central mechanism of phototransduction. It is primarily the cone photoreceptors that are affected, and since these are housed in the macula, central vision deteriorates while peripheral vision remains, in many cases, unaffected.

In the minority of patients with a mutated ELOVL4 gene, clumps of proteins develop and interfere with the photoreceptors, leading to the gradual death of those cells and a progressive loss of central vision.

Content on this page was written by Dr. Chad Andrews and Dr. Mary Sunderland, and was most recently updated on August 23, 2018. An earlier version of the content was approved by Dr. Nupura Bakshi.

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