Stargardt Disease: What It Is, Causes, Symptoms, and More
November 26, 2024 • 2:42 PM
Stargardt disease is a rare and serious eye condition that causes vision loss over time in children and, less commonly, in adults.
It’s one of the most common forms of macular degeneration in children, affecting roughly one in 10,000 people worldwide. While it’s rare, it’s common enough that parents should familiarize themselves with its symptoms so they can identify the signs in their kids.
Here’s everything you need to know about Stargardt disease, including vital information about its symptoms, causes, diagnosis, and treatment.
What Is Stargardt Disease?
Stargardt disease, sometimes called Stargardt macular dystrophy, fundus flavimaculatus, or simply STGD, is a condition that affects the macula. The macula is the part of the eye that’s primarily responsible for clear, central vision. As the condition progresses, it can become more difficult to see fine details — and even recognize faces.
Loss of central vision due to Stargardt disease typically occurs over time, but symptoms tend to appear in childhood. Early diagnosis of Stargardt disease can slow its progression and give adolescents earlier access to life-changing forms of treatment, which we’ll discuss in detail later.
What Are the Symptoms of Stargardt Disease?
Stargardt disease primarily causes problems with central vision. However, the specific symptoms that someone with Stargardt will experience depend on several factors, such as the age of onset and the progression of the disease.
Here are some of the most common symptoms of Stargardt disease at different stages:
Changes to Central Vision
These changes make it difficult to see fine details like words on a page or a face on the other side of the room. As the condition progresses, visual acuity continues to decrease, affecting a person’s ability to see close up and far away.
Problems With Low-Light Vision
Many people with Stargardt disease need help driving at night, and others may struggle with moving from brightly lit spaces to darker spaces and vice versa.
Problems With Color vision
Stargardt disease can also affect color perception over time, making it harder to tell certain colors or shades apart. If your child often misidentifies colors, it might be time to take them to an ophthalmologist.
Central Scotomas
Scotomas are blind spots near a person’s visual center, and they’re common with Stargardt disease. Scotomas make it difficult for a person with Stargardt to drive, read, or use a computer, especially in the later stages of development.
Visual Distortions
One common example is rings of light after seeing something bright, which often appear as disease progression continues.
On the other hand, people with Stargardt disease usually retain most of their peripheral vision, which allows them to navigate independently in many cases. This difference sets Stargardt apart from many other eye diseases, which can lead to total vision loss across the board.
What Are the Causes of Stargardt Disease?
People inherit Stargardt disease through autosomal dominant inheritance, which means that both of their parents carry the mutated gene. In most cases, this is the ABCA4 gene, which provides cells with instructions for making an essential protein involved in light detection and processing.
When this gene contains a mutation, the result is a buildup of toxic byproducts called lipofuscin in retinal cells. As lipofuscin collects, it can damage the photoreceptors in the macula and cause vision loss in this part of the retina.
In addition to the ABCA4 gene, several other genes, including the ELOVL4 and PROM1 genes, are sometimes responsible for cases of Stargardt disease. These mutations produce rarer forms of Stargardt.
How To Diagnose Stargardt Disease
Multiple methods are used to diagnose Stargardt disease, but the best way to confirm that it’s Stargardt and not something else is to use a combination of tests.
Here are some of the most common diagnostic tests used for diagnosing Stargardt disease:
Visual Acuity Test
This is a standard test that’s part of annual eye exams. It measures how well you see at various distances, helping an optometrist or ophthalmologist identify the early signs of Stargardt disease — in particular, trouble with central vision.
Dilated Eye Exam
This exam involves using eye drops to dilate the pupils, giving an eye doctor a closer look and a better chance of spotting potential problems. Dilation can reveal lipofuscin deposits, which are yellowish flecks that indicate that Stargardt’s disease is developing.
Optical Coherence Tomography (OCT)
This imaging test uses waves of light to represent a cross-section of a person’s retina. By providing a readout of the thickness of the macula, it can detect retinal degeneration and retinal diseases of many kinds, including Stargardt.
Fundus Autofluorescence (FAF)
Fundus autofluorescence uses specific light wavelengths to detect the lipofuscin deposits in a person’s retina. It’s similar to fundus fluorescein angiography (FFA) in that it examines the retina. However, FFA requires the injection of a fluorescein dye in order to image the retina and focus on the blood vessels in the back of the eye, which is more invasive.
Genetic Testing
Stargardt disease is inherited in an autosomal recessive pattern, and genetic tests can identify mutations in the genes that cause the disease.
How To Manage Stargardt Disease
There isn’t a cure for Stargardt disease at the time of this writing, but there are ongoing clinical trials for potential treatments. The best options for managing symptoms include:
Low Vision Aids
If someone with Stargardt disease has experienced enough macular degeneration, they might need magnifying glasses, an E-reader with high-contrast text, or an accessibility device like a screen reader.
These tools make it easier for someone with Stargardt’s to continue going to school or working. Since the condition is often a form of juvenile macular degeneration and symptoms can progress at variant rates, some children may benefit from homeschooling or a specialized setting to help them learn and be accommodated.
UV Protection
Exposure to ultraviolet light can damage a person’s retinas, and Stargardt can make you even more sensitive to the sun’s rays. Protection from UV light with a stylish pair of sunglasses is one of the best lines of defense.
If you’re living with Stargardt or shopping for someone with the condition, check out Pair’s lineup of sun tops.
Lifestyle Changes
Living a healthy life is one of the best ways to care for your eyes, especially if you have a condition like Stargardt disease or are raising a child with it.
For adults, quitting smoking is always a good idea. In addition, a healthy diet is a smart move for anyone with the condition. Eating plenty of antioxidants, found abundantly in fruits, vegetables, and other whole foods, can help you build up your line of defense for the cells in your body.
Seek Support
Living with Stargardt can be difficult, as can raising a child with the condition. Support from friends, family members, and professionals is key to staying hopeful, positive, and connected.
If you’re struggling to manage your symptoms or your child’s, support from a therapist or counselor can be life-changing. Also, keep in touch with your ophthalmologist (or your child’s), as they can provide you with additional assistance between appointments.
What Are Some Potential Treatments for Stargardt Disease?
While there’s no cure for Stargardt disease, there are treatments that can make it easier to live with:
Gene Therapy
Gene therapy is still considered an experimental treatment for Stargardt and other inherited conditions. However, this treatment has the potential to reduce or repair the issues with the ABCA4 gene, slowing down age-related macular degeneration (AMD) caused by Stargardt. More research is needed before we know how effective gene therapy can be.
Stem Cell Therapy
Stem cell therapy is another experimental treatment for Stargardt and other genetic diseases. It involves using stem cells to repair and regenerate the retinal cells that are damaged by Stargardt.
Ongoing clinical trials in stem cell research may transform what treatment for Stargardt looks like in the future.
Closing Thoughts
Stargardt’s disease is a serious condition that can turn a person’s life upside down. If you live with the disease or are raising someone who does, any form of support can go a long way.
Sometimes, that support is as simple as a fun, stylish pair of glasses for you or your child. Check out Pair’s full selection of Base Frames and Top Frames to get the vision correction you need with a bold, unique look.
Sources:
What Is Stargardt Disease? | American Academy of Ophthalmology
Living with Stargardt disease: insights from patients and their parents | PubMed