There are no proven treatments for Stargardt disease. Theories are being tested, and doctors tell people to wear sunglasses, but as of now, this is all that can be done. (Learn More)

This is a genetic condition that is a form of macular degeneration. (Learn More) Because of this, some doctors may discuss macular degeneration treatments with their patients. (Learn More)

The first step is to get an accurate diagnosis of this condition. (Learn More) The symptoms can start between ages 10 and 40, so some people will not know that they have this condition until later in life. (Learn More)

Once there is an accurate diagnosis, people can talk to their doctors about the investigative treatment options. (Learn More) In some cases, traditional macular degeneration management options may also be discussed. (Learn More)

woman experiencing eye burn

What Is Stargardt Disease?

Stargardt disease is a form of macular degeneration that is inherited. It affects the macula, which is in the central retinal area.

Between ages 10 and 40, people with this condition usually start to develop symptoms. Issues can include trouble reading and color perception changes. In addition, their central vision develops blind spots.

This disease affects both eyes. Gene ABCA4 is mostly responsible for this condition, and it is a recessive trait. This means that children have a 25 percent chance of developing the disease if both parents have the ABCA4 gene mutation.

While not common, ELOVL4 gene mutations may also cause this condition. Both the ELOVL4 and ABCA4 genes provide the information necessary for the creation of proteins that are present in the retina’s light-sensing cells.

ABCA4 is responsible for taking substances that are potentially toxic out of the photoreceptor cells. When this gene is mutated, these substances are not efficiently removed from these cells. This results in them accumulating and causing the formation of lipofuscin. Eventually, cell death results, leading to progressive vision loss.

EVOVL4 helps with creating very long-chain fatty acids. It is mostly active in the retina, but also in the skin and brain. It is not known how these fatty acids function in the retina. However, when this gene is mutated, EVOVL4 protein clumps form. As they accumulate, this can interfere with the function of retinal cells, ultimately resulting in the death of these cells.

This disease is progressive, and vision loss that is causes gets worse over time. The vision loss is the result of a fatty yellow pigment accumulating in the macula’s cells. This pigment is known as lipofuscin. It is a pigment that remains after the absorption and breakdown of damaged blood cells.

Since the macula is affected, peripheral vision is usually not impacted. However, the central visual field can experience reductions over time.

What Is Macular Degeneration?

diagram comparing two afflicted eyes

This condition affects more than 10 million people in the U.S., and it is the leading cause of vision loss in the country. Like Stargardt disease, macular degeneration is incurable.

When the central area of the retina deteriorates, this condition develops. This area is referred to as the macula.

The macula is responsible for being able to focus the eye’s central vision. When problems are occurring, it can affect a person’s ability to read, recognize colors or faces, drive a car, or observe details of an object.

Diagnosing Stargardt Disease

Initially, doctors may suspect more common forms of macular degeneration and perform the diagnostic tests used for this eye condition. These tests may include:

  • Back-of-eye examination to look for drusen and the mottled appearance it causes.
  • Indocyanine green angiography to determine the exact type of macular degeneration a person has.
  • Amsler grid testing to determine central vision abilities.
  • Optical coherence tomography to get a better look at the retina.

Once the doctor suspects Stargardt disease, they will dilate the eyes and perform an examination. They are looking at the retina to see if there are elongated white, branching flecks present. If they are observed, the doctor will confirm the diagnosis using fluorescein angiography.

Fluorescein angiography involves injecting a fluorescent dye to highlight the blood vessels. For this specific test, the doctor is observing those at the back of the eye and taking photos. Photos are taken before and after the dye is injected for comparison.

Stargardt Disease Treatment

There is no cure or treatment for this condition. However, doctors often recommend that people wear sunglasses in the sun and areas where the light is bright. For example, when someone goes to a grocery store, they should wear sunglasses since it is a bright environment. While it has not been proven, doctors believe that sunglasses offer protective benefits.

In some cases, anti-VEGF drugs injected intraocularly might be considered for this disease. These drugs are most often used for wet macular degeneration.

Vascular endothelial growth factor (VEGF) is a protein that is naturally occurring in the body. It works to support organ and tissue growth by triggering new blood vessel formation. However, with wet macular degeneration and certain other diseases, it can cause the formation of abnormal blood vessels. This can result in loss of central vision and scarring when the vessels develop in the eyes.

These medications work to inhibit the activation and binding of VEGF receptors. Getting shots regularly may stop the formation of these abnormal blood vessels. The medicine is injected directly into the affected eye. The doctor uses anesthesia first, so the person has no discomfort.

Throughout the world, scientists are conducting clinical trials to look into new possible treatments for this disease. There is a gene therapy treatment that is being explored in Europe. This gene therapy introduces a virus that triggers formation of ABCR protein. The theory is that this protein will replace the defective one.

diagram of Macular Degeneration

Macular Degeneration Treatments

The actual medical treatments used for macular degeneration are not used for Stargardt disease. However, some of the management techniques may be considered.

The following are lifestyle methods that may be helpful for some people:

  • Do not smoke.
  • Make sure any other medical conditions are under control.
  • Have eye exams routinely, according to a schedule created by a doctor.
  • Exercise regularly.

Certain vitamins may benefit people with vision loss. These vitamins are sometimes recommended to people who have the early stage of dry macular degeneration.

  • Vitamin C 500 mg
  • Lutein 10 mg
  • Zinc 80 mg
  • Vitamin E 400 IU
  • Zeaxanthin 2 mg
  • Copper 2 mg

Never take any supplements without the consent of a doctor. It is possible for supplements to do more harm than good, especially when someone is using them incorrectly.

While there are no treatments, research is being performed to look for potential options for the future. Currently, wearing sunglasses and following other management options used for macular degeneration can be beneficial for some people.

References

Stargardt Disease. Bright Focus Foundation.

Stargardt Disease Defined. American Macular Degeneration Foundation.

Stargardt Disease. Genetic and Rare Diseases Information Center.

Lipofuscin. MedlinePlus.

What Is Macular Degeneration? American Macular Degeneration Foundation.

Fluorescein Angiography. Healthline.

Dry Macular Degeneration. Mayo Clinic.

Eylea Injection Treatment of Macular Degeneration. American Macular Degeneration Foundation.

EU/3/08/609. European Medicines Agency.