Stargardt Disease
Description
Stargardt disease, also known as Stargardt macular dystrophy, is a genetic condition affecting the central part of the retina, called the macula. This area is responsible for sharp, detailed vision, crucial for tasks like reading, driving, and recognizing faces. Stargardt disease leads to progressive vision loss, primarily affecting central vision.
Genes Involved
Stargardt disease is caused by mutations in the ABCA4 gene, which plays a crucial role in maintaining the health of retinal cells. This gene provides instructions for creating a protein that transports a specific type of vitamin A derivative, crucial for healthy vision.
Recognizing the Signs and Symptoms
Recognizing Stargardt disease early is crucial for managing its progression. Common signs and symptoms include:
- Blurred central vision: This is the most common symptom, making it difficult to see objects directly in front.
- Distorted vision: Straight lines may appear wavy or bent.
- Difficulty recognizing faces: Due to central vision loss, recognizing faces can become challenging.
- Increased sensitivity to light: Some individuals with Stargardt disease experience discomfort from bright lights.
- Dark spots in central vision: These spots are known as scotomas and can impair reading and other tasks.
If you notice any of these symptoms, it is essential to consult an eye doctor immediately.
Causes
Stargardt disease is an inherited condition, meaning it is passed down through families. Individuals inherit two copies of the ABCA4 gene, one from each parent. If an individual inherits a mutated copy of the ABCA4 gene from both parents, they will develop Stargardt disease.
Inheritance/recurrence risk
Stargardt disease follows an autosomal recessive inheritance pattern. This means that both parents must carry the mutated gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance of their child developing Stargardt disease, a 50% chance of being a carrier, and a 25% chance of inheriting two normal copies of the gene.
If one parent has Stargardt disease and the other is a carrier, there is a 50% chance of their child developing the disease and a 50% chance of being a carrier.
If one parent has Stargardt disease and the other is not a carrier, their child will not inherit the condition. However, they will be a carrier.
