Stargardt disease is a rare, inherited form of macular degeneration that usually appears in children, teens, and young adults. This eye disease can cause central vision loss or blurring.
You may not think about children, teenagers, and young adults experiencing vision loss or blurry vision more than older adults. But a rare eye disorder known as Stargardt disease makes that a concern, as it’s a form of macular degeneration that usually affects those who are younger.
In this article, you’ll learn who develops Stargardt disease, what treatments are available, and what to expect if you or your children inherit this condition.
Stargardt disease is a form of macular degeneration. But it’s really only the same as age-related varieties of the disease in the way it affects your vision.
About macular degeneration
About 11 million people in the United States have some form of age-related macular degeneration. Macular degeneration is the leading cause of vision loss as we age.
You can learn more about those types of macular degeneration and how it can impact your central vision.
Unlike age-related macular degeneration, Stargardt macular degeneration is passed down through families. You won’t develop this condition spontaneously over time. Instead you must have at least one parent that passed a specific genetic mutation to you.
Also known as juvenile macular degeneration, this form of macular degeneration often first appears in children, teenagers, and young adults. There’s no cure, so it’s possible to have Stargardt disease later in life. But it still would have been inherited from your parents.
The only real risk factor for Stargardt disease is having at least one parent who carries the gene mutation that causes it.
Stargardt disease is caused by mutations in the ABCA4 gene or the ELOVL4 gene. Both of these genes guide your body on how to make specific proteins found in the retina.
- ABCA4 gene: This gene mutation prevents the creation of this protein, which helps to remove toxins from photoreceptor cells. As these toxins build up in the retina, cell death and vision loss occur. This specific mutation requires a copy of the genetic mutation from each parent to produce symptoms. It’s possible to inherit just one copy of a mutated ABCA4 gene, but this may not result in symptoms of vision loss.
- ELOVL4 gene: This gene mutation affects the function of fatty acids in the retina, leading to the formation of protein clumps that can damage or destroy cells in the retina. Unlike the ABCA4 gene, just a single copy of the ELOVL4 mutation from one parent is enough to cause symptoms and vision loss.
As with other forms of macular degeneration, damage to the macula area of the retina mainly creates blurriness or vision loss in the form of dark spots in your central field of vision.
The National Eye Institute and other researchers say that Stargardt disease can produce
- dark or hazy spots in your central vision
- blurry vision
- sensitivity to light
- difficulty adjusting from light to dark settings
- lines and shapes may appear wavy or distorted
- color distortion or
color blindness
Your side vision (peripheral) is usually not affected by Stargardt disease, but it’s
Stargardt disease progresses the most quickly when it appears early.
Adult onset cases are possible, and usually progress more slowly.
Beyond that, rates of disease progression vary widely, from about 0.28 to 1.58 mm2 of loss per year. It’s not uncommon for the rate of vision loss to progress or accelerate initially and then level off in time.
More so with Stargardt disease than with age-related macular degeneration, symptoms can vary a bit from person to person. What’s consistent, however, is a loss of visual acuity.
Total blindness is possible, but
Other symptoms that are common but not as prevalent as vision loss include:
- structural changes in the connective tissues of the eye (choroid)
- damage to the fovea centralis — the primary point of central visual acuity
- abnormal coloring or pigmentation of eye tissues
There’s really no treatment available for Stargardt disease. Research studies and clinical trials are investigating things like medications, stem cell therapy, and gene therapy, but for now finding ways to cope with vision loss is the only option for people with Stargardt disease.
There are a few recommendations that may help to slow the progression of this disease and include:
- not smoking
- avoiding taking too much supplementary vitamin A
- protecting your eyes from sunlight outside
There’s no cure for Stargardt disease.
People with this condition inherit genetic mutations that lead to vision loss. There’s also no way to prevent passing this gene if you carry it.
However, genetic testing may be able to identify risk, and genetic counseling is available to help determine the risk of passing this gene to your child if it runs in your family.
Stargardt disease is sometimes called juvenile macular degeneration, and it’s an inherited form of vision loss that often appears at some point during childhood.
Some people don’t have symptoms until adulthood, but there’s no cure at any age for this condition.
In addition to central vision loss, people with Stargardt disease may experience sensitivity to light and discolorations in their eye tissue or vision.