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Stargardt Disease

Stargardt disease is the most common form of inherited juvenile macular degeneration. It is caused by a deterioration of the eye’s macula. The condition typically develops during childhood or adolescence, but sometimes does not cause vision problems until later in life. The macula is part of the retina that is responsible for color perception and central vision, which is needed for detailed tasks such as reading, writing, driving and seeing other fine details clearly.

The rate at which vision is lost varies for each person. However, eventually most people with Stargardt disease have 20/200 to 20/400 vision, which cannot be corrected with prescription eye glasses, contact lenses or refractive surgery.

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In most cases, Stargardt disease is inherited as an autosomal recessive trait. It is inherited when both parents, called carriers, have one gene for the disease paired with one normal gene. Each child has a 25 percent chance of inheriting two copies of the Stargardt gene (one from each parent) needed to cause the disease. Carrier parents are unaffected because they have only one copy of the gene.

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In the early stages of Stargardt disease, vision may be near normal, which can delay diagnosis. As the condition progresses, it causes loss of central vision, which is needed for detailed tasks such as reading, writing, driving and seeing other fine details clearly.

Other symptoms include:

  • Difficulty perceiving color
  • Blind spots in the field of vision
  • Difficulty adapting to dim or dark spaces such as a darkened room or outside at dusk, or after being exposed to bright lights

In many cases, your ophthalmologist may be able to detect Stargardt disease by examining your retina and macula. These parts of the eye often develop yellowish flecks that are deposits of a fatty byproduct of normal cell activity, called lipofuscin, which accumulates abnormally in people with Stargardt disease.

A test called fluorescein angiography or optical coherence tomography (OCT) may also be recommended to obtain more detailed images of your retina. In addition, it may be necessary to measure how the retina responds to light with electrodiagnostic tests such as an electroretinogram (ERG) or multifocal ERG.

At this time there is no treatment available for Stargardt disease. However, researchers are studying gene and drug therapies. One promising study involves delivering a healthy version of the gene that causes Stargardt disease, ABCA4, into retinal cells to restore production of the normal protein. Your ophthalmologist may discuss the option of testing your blood for mutations in this gene. Another study aims to replace the cells that live under the retina, the retinal pigment epithelial (RPE) cells, using stem cell therapy. Other approaches aim to develop drugs that can reduce the buildup of lipofuscin, which is responsible for vision loss in people with Stargardt disease.

Researchers have also found that exposure to excessive amounts of light may cause further retinal damage. Therefore, it is essential that people with Stargardt disease wear sunglasses with UV protection and a hat with a wide brim. It is also recommended that patients with Stargardt disease avoid taking supplemental vitamins containing more than the recommended daily allowance of vitamin A, since large amounts of vitamin A may make the disease progress faster.

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Reviewed by health care specialists at UCSF Medical Center.

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