If you’re starting to notice changes in your central vision, especially at a younger age, or you’ve been told you might have a rare eye condition, it’s natural to feel concerned. Stargardt disease, also known as Stargardt macular dystrophy, is a rare inherited retinal condition that causes progressive vision loss. It affects the macula—the part of your retina responsible for sharp, central vision. While it can be challenging, learning about the condition empowers you to take proactive steps, explore genetic insights, and maintain the best vision possible for as long as possible.*

How Stargardt Affects Your Vision

You’ll likely first experience gradual central vision loss in both eyes, often beginning in childhood or adolescence, though onset age and progression speed can vary. You might:

• Notice dark or blurry spots in the center of your vision, 
• Have trouble adjusting to dim lighting, or 
• Find that you’re more sensitive to bright light. 

Although your peripheral vision typically remains intact, the central vision loss may eventually reach legal blindness levels (around 20/200), and unfortunately, neither glasses nor surgery will correct it.

The condition is usually caused by a mutation in the ABCA4 gene, which leads to a buildup of fatty material in your retina. This buildup damages the photoreceptors—rods and cones—that help you see. If both your parents carry the faulty gene, there’s a risk of inheriting the condition. There are other gene variants (like PRPH2, PROM1, and ELOVL4) that may cause similar symptoms and may be inherited differently.

Diagnosis and the Importance of Genetic Testing

To get an accurate diagnosis, you’ll first see an eye doctor who may refer you to a retina specialist. Expect a thorough exam: 

• Pupil dilation, 
• Visual acuity and color testing, 
• Retinal imaging, and 
• Electroretinography (to check how your photoreceptors respond to light). 

You’ll also share your personal and family medical history. During the exam, the retina specialist will likely see yellow flecks of lipofuscin, a normal byproduct of cell activity in the retina that accumulates at abnormally high rates in people with Stargardt disease. 

Genetic testing plays a key role here. It can confirm your diagnosis, reveal how the disease might progress, and uncover if other family members are at risk. Your doctor may refer you to a genetic counselor to walk you through the testing process and what your results mean. If you’re interested in clinical trials, genetic confirmation is often required.

Living With and Managing Stargardt Disease

Though there’s no approved treatment yet, clinical trials are in progress. Meanwhile, you can take steps to protect your remaining vision: 

• Avoid smoking 
• Wear large, wraparound UV-blocking sunglasses and sunhat or cap for maximum coverage
• Steer clear of vitamin A supplements and excessive beta carotene (as in carrots) consumption
• Wear protective eyewear during activities that pose eye injury risks
• Avoid taking chloroquine sulfate (an antimalarial drug)

Vision rehabilitation services can help you adjust to vision loss, providing tools and training for daily living. You can ask your eye doctor for a referral or use online directories like VisionAware’s Directory of Services for people with low vision. Regular follow-ups with your eye doctor every 1–2 years, or more often if your vision changes, will help monitor your eye health and make any necessary adjustments.

*Prevent Blindness. (n.d.). Stargardt Disease. https://preventblindness.org/stargardt-disease/ 

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