Stargardt's Eye Disease

Stargardt's disease is a form of inherited juvenile macular degeneration with symptoms that may be similar to age-related macular degeneration that occurs in older people. According to the American Macular Degeneration Foundation, Stargardt's disease affects 1 in 10,000 children. Although it occurs in young people and has no cure, having Stargardt's disease does not mean that the patient cannot lead a vital life.

History

• There are several types of early-onset inherited juvenile macular degeneration. Stargardt's disease, the most common form, was first reported in 1909 by Karl Stargardt, a German ophthalmologist. Another such retinal disorder was called fundus flavimaculatus when it was discovered in 1963; in 1976, two researchers, O.B. Hadden and J. D. Gass, determined it to be the same genetic disease as Stargardt's. But many scientists still believe that a distinction should be made between the two conditions.

Symptoms

• Stargardt's disease typically is diagnosed in patients between the age of 6 and 20. It causes a progressive loss of central vision with a preservation of the peripheral vision. Some patients develop problems with color vision as the disease progresses. Other symptoms include blurred vision and problems with distortion. It is important to note that these changes in visual acuity cannot be corrected by new prescription glasses.

Causes

• In 1997, researchers determined what gene causes Stargardt's disease. Stargardt's disease can be passed on by either an autosomal gene (an abnormal gene from one parent) or by recessive genes (abnormal genes from both patients). If a parent has the recessive gene that causes Stargardt's, that parent would not have the disease but if the other parent has the recessive gene, there is a 25 percent chance that a child would develop the condition. The other children of this couple would carry the recessive gene.

Presentation/Testing

• At the beginning stages of the disease, the retina looks normal. But when the disease begins to progress, it may look like the patient has macular degeneration with yellowish flecks in the center of the retina (macula); in later stages, the retina begins to break down or degenerate. The eye doctor may perform other tests--Amsler grid, color vision exams, or an electrodiagnostic test to measure macular and retinal function--both to confirm the diagnosis and to measure the disease status.

Treatments

• At this time, there is no known treatment for Stargardt's disease but there may be steps that patients can consider. Some physicians suggest that patients with Stargardt's disease should always wear sunglasses to protect the eyes from ultraviolet light. Others suggest that avoiding bright light in general is beneficial. However, even if a patient follows these two steps, there is no way to slow the progression of the disease.

Considerations

• With the discovery of the genetic basis for this condition, there is hope that further research can point to possible treatments. Until that time, patients with Stargardt's disease and their families need to learn more about available low-vision services and needed adaptations for both work and home. By being aware of these options, patients with Stargardt's can lead a fulfilling and useful life.