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Stargardt Disease Treatment

Stargardt disease is a genetic condition of the retina that causes significant vision loss, usually in childhood or adolescence. Whereas normal vision is 20/20, individuals with Stargardt disease experience vision loss over time, often declining to 20/200 or worse.1

What is Stargardt disease?

In this condition, rods and cones die off, but especially cones, affecting both the ability to see fine details as well as color. A genetic mutation of the ABCA4 gene also causes a buildup of a fatty substance called lipofuscin in and around the macula, which is associated with the loss of light-sensing cells responsible for central vision.

Symptoms

The most common symptom of the condition is the progressive loss of central vision, which might include hazy or black spots in the middle of your visual field. Individuals might also become more sensitive to bright lights and eventually may become color blind.

Diagnosis

Because the disease is slowly progressive, symptoms might not be apparent at first. An eye doctor can do a standard eye exam, as well as various tests to determine visual field disturbances, color blindness, and take a closer look at the macula with special kinds of photography and other imaging techniques. These tests can check for lipofuscin deposits and provide you with a more accurate diagnosis.

Protective behaviors

Right now, there is no cure for Stargardt disease – however, there are things you can do to help protect your current vision and promote eye health.

  • When you’re out in the sunlight, especially bright light, wear dark sunglasses, and if possible, a wide-brimmed hat. This helps to minimize the stress placed on your light-sensing cells and thus reduces the buildup of lipofuscin.1
  • If you smoke cigarettes, consider quitting, since cigarette smoke and secondhand smoke can be detrimental to vision health.
  • Check your vitamin supplements if you take any to make sure you aren’t taking more than the recommended daily allowance of vitamin A. Too much vitamin A can encourage lipofuscin deposition and possibly speed up vision loss.1

Adaptations

Although these aren’t treatments for the disease, there are functional devices and services you can utilize to help you adapt to your vision loss with Stargardt disease. Electronic reading machines, hand-held magnifying lenses, and other low-vision aids can be helpful for everyday activities and things like homework or other work. An occupational therapist might also be helpful in showing you ways to adapt behaviors and activities of daily living to adjust to your decreasing vision.

Possible future treatments

There are various trials being explored as possible treatments for Stargardt disease, but they’re still in the early stages. Some other eye diseases with a genetic cause have treatments, and many scientists are hopeful that there will soon be a genetic treatment for Stargardt disease, as well.

Current research

Currently, a study is being done that puts a healthy ABCA4 gene into retinal cells, to stimulate normal protein production, and another study that is looking at inserting stem cells underneath the retina to replace the damaged retinal support cells that have accumulated too much lipofuscin.2 Other studies include looking at the removal of lipofuscin, and another that involves oral administration of a new drug called emixustat to help treat the disease.3 More research is needed to determine whether these new treatments are effective, and for which kinds of patients these treatments are best suited.

What can you do?

Even though there’s no official treatment yet for Stargardt disease, talk with your doctor about healthy behaviors you can perform to help slow progression and protect your current eye health. Sometimes there are clinical trials for patients who meet certain criteria, in which you might be able to get treatment that is not yet generally available. Ask your doctor whether there are any existing clinical trials that are accessible and if this might be an option for you.

Other factors to consider

Don’t neglect your emotional health with Stargardt disease – living with a chronic condition that has no known treatment can be stressful. Find someone with whom you can talk honestly about living with the condition and any stressors or challenges that come up because of it.

Written by Jaime R. Herndon | Reviewed September 2019
  1. Facts About Stargardt Disease. National Institutes of Health: National Eye Institute website. Last reviewed April 2015. https://nei.nih.gov/health/stargardt/star_facts. Accessed October 1, 2018.
  2. Stargardt Disease Treatment. University of California San Francisco Health website. 2018. https://www.ucsfhealth.org/conditions/stargardt_disease/treatment.html. Accessed October 3, 2018.
  3. Sears AE, Bernstein PS, Cideciyan AV, et al. Towards treatment of Stargardt disease: Workshop organized and sponsored by the Foundation Fighting Blindness. Transl Vis Sci Technol. 2017; 6(5): 6. Doi: 10.1167/tvst.6.5.6. Accessed October 3, 2018.