Stargardt Disease
Overview
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.
In most cases, Stargardt disease is inherited as an autosomal recessive disorder. People who have one gene for the disease paired with one normal gene are unaffected. These people are called carriers. When two carriers have children, each child has a 25 percent chance of inheriting two copies of the Stargardt gene (one from each parent). Children who inherit two copies of the Stargardt gene will have the disease.
Our approach to Stargardt disease
UCSF's ophthalmologists provide comprehensive evaluations and care for all types of eye conditions, from the most common to the rare and complex. They are experts in inherited eye diseases, such as Stargardt disease.
Although Stargardt disease currently has no treatments, researchers are working to develop them. Interested patients may be able to receive experimental treatments by joining a clinical trial. Lifestyle changes, such as avoiding excessive light and not taking supplements that contain vitamin A, can slow vision loss. Low-vision aids, mobility training and other supportive care can also help patients with performing everyday tasks.
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Signs & symptoms
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
Diagnosis
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.
Treatments
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.
Visual aids and adaptations around the home and at work, and training from social services can help those with Stargardt disease. It may also be important that people with Stargardt disease visit a genetic counselor who can discuss disease inheritance and help with family planning, career choices and other issues related to living with the condition.
UCSF Health medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
