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Stargardt Disease

Stargardt’s macular dystrophy (SMD), also known as fundus flavimaculatus is degenerative disorder of the eye. Macular degeneration typically affects older eyes. SMD is basically early-onset macular degeneration. Those with SMD begin to develop symptoms of macular dystrophy before they turn twenty.

The macula is the most important part of the retina, the light sensing area in the back of the eye. The macula is responsible for acute central vision and perceiving color. SMD is caused by the production of imperfect vitamin A. The vitamin A clumps together to form deposits in the retina. This causes the retina’s outer layer to break down. The clumps of tissue that fall off are called drusen. Once the macula’s protective layer is gone, it is open to deterioration. There is a similar form of the disease where, instead of vitamin A, very long chains of fatty acids build up and cannot be broken down.

Before true vision loss, patients may have trouble reading or interpreting faces. They may experience blurriness and straight lines may appear curved. Color perception also decreases, even in the peripheries. Those with SMD are also very sensitive to glare and sunlight. They also have difficulty adjusting to changing lighting.  The clearest sign of SMD is central vision loss. Because the macula is only responsible for interpreting the central field of view, peripheral vision is normally retained. Central vision loss begins as patches of blind spots, before forming together in the central field of view.

SMD is most likely genetically passed down. It is the result of a defect in one of two genes. In most cases, this mutated gene is recessive to the normally functioning one. In rare cases, the mutated gene may be dominant and present itself immediately. If this gene is passed down to one’s child, they will almost certainly present symptoms.

Even though the cause may be similar, the progression of the disease is different for each patient. Vision loss can begin anywhere between 5 and 30. Once it does begin, it may progress rapidly or slowly. Most patients never experience vision better than 20/50. Many patients also progress to 20/200, but vision loss may plateau at any point. Fortunately, some patients are able to retain the vision enough to perform normal activities such as driving. Luckily, SMD has no adverse affects on patients’ overall health; life expectancy is normal.

Those with SMD should constantly be wearing eyeglasses and sunglasses that block UV radiation to prevent further damage to the retinas. There is no cure or treatment for SMD. Fortunately, however, medication is currently in development that has shown promise. Stem cell injections have shown to help regrow damaged retina tissue. This treatment has shown complete reversal of vision loss. Artificial vitamin A can also be administered to replace the damaged vitamin A affecting the retinas. Unfortunately, none of these treatments are fully approved, but the research seems to confirm they will be extremely effective in treating SMD in the future.