Rare Disease Highlight: Stargardt Disease

Stargardt Disease, also known as juvenile macular degeneration, is a rare disease of the eyes in which part of the eye called the retina does not function correctly. This is the most common form of inherited macular degeneration, affecting about 30,000 people in the United States2. Stargardt’s is a genetic disease caused by a change in the gene ABCA4, which affects how the body uses vitamin A (retinol)4. Normally, vitamin A is helpful to vision because it maintains a clear cornea and is crucial in allowing us to see in low lighting. As a result, fatty materials build up in the part of the eye called the macula, which is a very small part of the retina responsible for seeing sharp images that are straight ahead4. This disease usually starts in childhood but some people do not experience loss of vision until adulthood. Since central vision is compromised, these patients rely on their peripheral vision for most of their sight. Individuals with this disease experience loss of vision, often have trouble going from light to dark places, or have a higher sensitivity to light4. These patients are unable to drive, have trouble reading normal size print, and struggle identifying facial features5. There is no current treatment for Stargardt Disease. Visual aids such as glasses, magnifiers, and wearable visual devices are helpful for these patients, as well as auditory features such as Siri, talk-to-text, and audiobooks1. Even with these aids, patients are not able to see with 20/20 vision, drive a car, or adjust for light sensitivity. This encourages development of new therapies for Stargardt Disease.


  1. American Academy of Opthamology. (2022). Resources and Links for People with Low Vision. Retrieved 8/23/22 from https://www.aao.org/eye-health/diseases/low-vision-resources
  2. Foundation Fighting Blindness. (2022). Stargardt Disease. Retrieved 8/19/2022 from https://www.fightingblindness.org/diseases/stargardt-disease#:~:text=Stargardt%20Disease%20is%20the%20most,the%20retina%20called%20the%20macula.
  3. Healthline. (2018). The 9 Most Important Vitamins for Eye Health Retrieved 8/24/22 from https://www.healthline.com/nutrition/eye-vitamins#:~:text=Vitamin%20A,low%20light%20conditions%20(%201%20).
  4. National Eye Institute. (2021). Stargardt Disease. Retrieved 8/19/2022 from https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/stargardt-disease#:~:text=Stargardt%20disease%20is%20a%20rare,vision%20until%20they’re%20adults.
  5. National Library of Medicine. (2010). Stargardt Macular Degeneration. Retrieved 8/23/22 from https://medlineplus.gov/genetics/condition/stargardt-macular-degeneration/

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