Stargardt Disease Overview
Stargardt disease is a rare genetic disorder that leads to damage to the retina and results in legal blindness. The onset of symptoms usually occurs during one’s teenage years, although symptoms can appear in children as young as 4 years old. There is currently no treatment for Stargardt.
Stargart disease damages the macula, the central part of the eye, used to see colors and details.
What Research Says About Stargardt Disease
One area of active research focuses on the role of vitamin A in Stargardt disease. This is because vitamin A is the “light switch” of the eye and is essential for vision. Stargardt disease is caused by a mutation in the ABCA4 gene, which affects the transport of vitamin A in and out of the eye. The eyes of Stargardt disease patients do not easily transport molecules, including vitamin A. This allows for vitamin A to accumulation and form clumps (called “vitamin A dimers”), which are toxic to the eye and may be responsible for the development and progression of vision loss in Stargardt disease.
An eye doctor (ophthalmologist or optometrist) performs visual function tests and takes a few photographs of the back of the eye to confirm the diagnosis. These images commonly include color fundus photographs, fundus autofluorescence and optical coherence tomography.
If a doctor suspects that their patient has Stargardt disease they may order genetic testing to confirm the diagnosis.
This image shows what doctors might see in the eye of a patient with Stargardt disease.
Symptoms of Stargardt Disease
Symptoms or disease progression vary by individual. Although the most frequent symptom is reduced visual acuity, some people retain good vision for years. Visual acuity is the ability of seeing sharp details in the center of vision. Common symptoms of Stargardt disease include:
- Blurry central vision
- Reduced visual acuity
- Blind spots in vision
- Distorted vision
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