Stargardt Disease

What is Stargardt disease?

Stargardt disease is a genetic eye condition that affects vision in the macula and causes you to lose vision over time. People with Stargardt disease have too much of a fatty yellow substance called lipofuscin. Everyone has lipofuscin, but in people with Stargardt disease, it collects over the macula. The macula is the central part of the retina that gives you clear and sharp central vision.

The macula contains light-sensing cells called photoreceptors. The blockages in the macula cause these photoreceptors to die.

Stargardt disease has other names, including Stargardt macular degeneration, fundus flavimaculatus and ABCA4 retinopathy, which refers to the genetic mutation of the disease. This gene influences the way your body uses vitamin A.

How does Stargardt disease affect my body?

Stargardt disease is usually bilateral (in both eyes). Many people are in their teens or twenties when they’re diagnosed, but this can happen earlier than 10 and later than 30.

Stargardt disease affects your central vision. People who have Stargardt disease can keep their peripheral vision. It’s unusual for someone to become completely blind, but you will have issues with low vision. While vision starts getting worse (20/40), it usually stops getting worse at 20/200.

We usually think of perfect vision as 20/20 vision. People with 20/40 vision see things at 20 feet the way that others with normal vision see things at 40 feet. People with 20/200 vision see things at 20 feet as clearly as others see things at 200 feet.

How common is Stargardt disease?

Some 1 in 10,000 people have this condition. There are an estimated 30,000 to 200,000 people with Stargardt disease in the U.S.

What are the symptoms and signs of Stargardt disease?

Signs and symptoms of Stargardt disease include:

• Being unable to see things clearly and sharply.
• Being unable to see well at night or in dim lighting.
• Losing your ability to see colors.
• Having involuntary eye movements.
• Having trouble adjusting to changes in light.

Your eye care provider will be able to identify changes in shapes and colors of parts of your eyes.

What causes Stargardt disease?

Stargardt syndrome is an inherited disease. Most cases are due to genetic variations in the ABCA4 gene. Less commonly, you can have variations in the ELOVL4 genes, BEST1 genes and PRPH2 genes.

Is Stargardt disease contagious?

No. Stargardt disease isn’t contagious. You can’t give it to anyone or catch it from anyone.

How is Stargardt disease diagnosed?

Your provider will take a complete medical history and do a physical examination. They will perform:

• A dilated eye exam.
• Optical coherence tomography (OCT).
• Electroretinography (ERG) to test your retina’s responses in different types of light.
• A fluorescein angiography test that uses dye to show the blood vessels in your retina.
• Blood tests to examine your genetic makeup.

How is Stargardt disease treated?

You can manage Stargardt disease, but you can’t cure it.

There are clinical trials in place to find ways to treat this type of macular degeneration as well as other types. Researchers are testing metformin, currently used to treat diabetes, as a possible drug treatment to slow the progression of Stargardt disease. They hope that metformin will improve the health of certain cells, including retinal cells.

Other clinical trials are focused on gene replacement therapy, or giving you a correct version of the ABCA4 gene to replace the incorrect variant. However, ABCA4 is very large, so its size presents a problem.

Other research concerns ways to coax embryonic stem cells into becoming retinal pigment epithelium that could be used to restore vision.

How can I manage symptoms of Stargardt disease?

There are things you can do if you have Stargardt disease. You can:

• Stop smoking. Avoid being around second-hand smoke.
• Wear sunglasses to reduce your sensitivity to light. They will also help you avoid damage from the ultraviolet rays from the sun.
• Don’t try to increase your vitamin A intake by adding supplements. The levels you get from food and/or a multivitamin product are enough.
• Ask your healthcare provider about participating in a clinical trial.

How can I prevent Stargardt disease?

You can’t prevent Stargardt disease. It’s an inherited condition.

What can I expect if I have Stargardt disease?

If you have Stargardt disease, you can expect to lose central vision. You will probably keep your peripheral (side) vision.

How do I take care of myself with Stargardt disease?

You can take care of yourself in many ways by eating a healthy diet and getting enough exercise. Don’t smoke. Deal with stress as it comes. Keep your regular schedule of appointments with your healthcare providers.

When should I see my healthcare provider if I have Stargardt disease?

Your eye care specialists will want to see you on a regular basis. Make sure you keep those appointments. However, if you have any changes in vision or any type of pain, you should contact your provider right away.

What questions should I ask my healthcare provider if I have Stargardt disease?

Here are some questions you may want to ask your provider if you have Stargardt disease:

• Can you suggest a support group for me?
• Am I eligible to take part in a clinical trial?
• Should I speak to a genetic counselor?
• Can you suggest things that will help me cope with low vision?

A note from Cleveland Clinic

Stargardt disease is the most common form of juvenile macular degeneration. Although it’s unlikely to cause complete blindness, the loss of central vision can make it difficult to do everyday tasks. You may find it helpful to use low vision aids. You may also benefit from participating in a clinical trial. Your eye care provider is your partner. They’ll be glad to help you in any way they can, so don’t hesitate to ask questions.