Stargardt disease
What is it?
Stargardt disease is an inherited eye disorder that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. It is named after Karl Stargardt, a German ophthalmologist who first described the condition in 1901.
Overview:
Stargardt disease is caused by mutations in the ABCA4 gene, which provides instructions for making a protein that is essential for the normal functioning of the retina. As a result, waste products accumulate in the retina, leading to the death of photoreceptor cells and progressive vision loss.
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Signs & symptoms
Symptoms of Stargardt disease usually appear in childhood or adolescence and may include:
- Blurred or distorted vision
- Difficulty seeing in low light or at night
- Loss of central vision
- Color vision abnormalities
- Blind spots in the field of vision
- Difficulty adapting to changes in lighting
- Difficulty reading or recognizing faces
- Eye strain or fatigue
Diagnosis
Stargardt disease is usually diagnosed through a comprehensive eye exam, which may include visual acuity testing, fundus photography, optical coherence tomography (OCT), and electroretinography (ERG). Genetic testing can confirm the diagnosis and identify the specific genetic mutation responsible for the condition.
Treatment
Currently, there is no cure for Stargardt disease. However, there are several treatments available that can help slow the progression of the disease and improve vision:
- Nutritional supplements such as vitamin A, vitamin E, and lutein
- Low-vision aids such as magnifying glasses, telescopes, or closed-circuit television (CCTV)
- Occupational therapy to assist with daily living skills
- Gene therapy and stem cell therapy are being researched as potential future treatments for Stargardt disease.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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