When patients come to Midwest Low Vision, they’re often surprised to learn that one of our team members understands their challenges not just professionally—but personally. Holly, our ABO-certified, low vision technician, was diagnosed with Stargardt disease in her mid-20s. Living, and thriving, with low vision allows her to better understand her patients and offer support that comes from genuine understanding.
In this article, we take a look at what Stargardt disease is, how it affects vision, and what support is available. We’ll also hear some insight from Holly along the way.
What is Stargardt Disease?
Stargardt disease, also known as Stargardt macular dystrophy, is a genetic type of macular degeneration that affects central vision and causes progressive vision loss. While it is more common to hear about age-related macular degeneration (AMD), which occurs later in life, Stargardt disease generally affects children and adults younger than 20. For this reason, healthcare providers sometimes refer to it as juvenile macular dystrophy. In Holly’s case, she wasn’t diagnosed until she was 26 years old. “I had been told as a teenager that there was something wrong—we just didn’t know what. It wasn’t until well into my optometry career before I was officially diagnosed.”
When you have Stargardt disease, your body can’t properly break down and remove from your eye a fatty substance called lipofuscin. As a result, this material builds up in the macula, damaging cells responsible for sharp central vision, which leads to vision loss.
Symptoms of Stargardt Disease
Symptoms of Stargardt disease often begin in childhood or young adulthood, though some may not notice changes until later in life. Common symptoms include:
- Blurred vision
- Gray or hazy spots in the center of your vision
- Sensitivity to light
- Difficulty reading or recognizing faces
- Color blindness
- Requiring more time for eyes to adjust between light and dark spaces
- Vision loss that cannot be corrected with glasses
Difficulties are often most noticeable when trying to complete tasks that rely on sharp, detailed vision. The condition generally advances slowly, but the rate of progression varies from person to person.
How Stargardt Disease is Diagnosed
Stargardt disease is diagnosed through a combination of eye examinations, advanced imaging, and an understanding of the patient’s medical history. The process generally involves:
- A detailed dilated eye exam to observe the macula for the characteristic yellow lipofuscin spots
- Imaging tests, including Optical Coherence Tomography (OCT), Fluorescein Angiography (FA), and Electroretinography (ERG), all of which help to assess any functioning, abnormalities, or level of damage in the retina
- Genetic testing to confirm the condition by identifying mutations in the ABCA4 gene, or less commonly, the ELOVL4 and PROM1 genes.
Treatments and Management of Stargardt Disease
Currently, there is no cure for Stargardt disease. Treatment focuses on managing symptoms and maximizing remaining vision. As disease progression is unique to each patient, treatment is customized as well. Notes Holly, “Even two people who have macular degeneration don’t see the same way…each condition presents different obstacles. Being able to adapt care to each patient is really eye-opening.”
Managing Stargardt disease involves the following recommendations:
- Maintain good sun protection to prevent further retinal damage.
- Avoid smoking, as some studies have noted a correlation with dimming of vision.
- Monitor vitamin A intake, as excessive amounts may make the disease progress faster.
- Take advantage of low vision aids like magnifiers, specialized glasses, or other tools.
While there are no FDA-approved medications available at this time for the disease, treatment continues to advance. A new drug called gildeuretinol has recently shown promise in slowing or even stopping vision loss from Stargardt disease by reducing toxic buildup in the retina. While it’s still too early to know when the treatment might be widely available, the research has been granted special FDA designations to speed up development.
Finding Support
Perhaps the most important help in living with the challenges of Stargardt disease is having support. Friends, family, and even employers can make a difference by offering patience and understanding.
Equally important is having a supportive medical care team. At Midwest Low Vision, we’re proud to have Holly on our team—not only as a skilled technician but as someone who truly understands what patients are going through. Holly says of her experience, “It’s not a disability that you can see. And working specifically with low vision patients, it’s amazing to see the difference when I’m able to tell them, “Hey, I know what you’re going through. I struggle with this as well. It’s almost like you can see a sigh of relief because they’re so used to their friends and family, who have their best interest at heart but maybe just don’t know what they see or what they’re experiencing, and being able to relate to them—it really means a lot to them.”
Conclusion
Living with Stargardt disease presents challenges, but as Holly proves, it doesn’t have to mean giving up independence or quality of life. With the right management and support, patients can thrive. If you’ve been recently diagnosed, or are looking for additional care to manage your vision, please reach out to us today. We’re here to help.