What Is Stargardt Disease?
Stargardt disease is also known as Stargardt Macular Dystrophy or Juvenile Macular Degeneration. It affects the macula, the small area in the center of each eye which provides sharp and detailed vision when looking at straight lines.
The disease usually begins in childhood or adolescence, and over time, it progresses to cause progressive loss of vision, including central sight loss, difficulty recognising faces, and loss color vision.
Stargardt is a disease caused by mutations in the ABCA4 gene. This gene provides instructions for producing ATP-binding transporter A4 proteins that transport lipofuscin from retinal cells. Lipofuscin builds up and eventually kills macula cell, causing vision loss.
Stargardt's disease is not curable, but there are treatments that can help to manage symptoms and slow the progression, such as tinted lenses, vitamin supplements or low vision rehabilitation.
Stargardt is an inherited disorder that results from mutations in genes passed on from parents to children. Stargardt is caused by mutations in the ABCA4 gene, which gives instructions on how to make an ATP-binding transporter A4 involved in transporting lipofuscin from retina cells.
What causes Stargardt disease?
Stargardt is caused by mutations in the ABCA4 genes that cause an accumulation of lipofuscin within the cells of the macula. This eventually leads to their death, and gradual loss of vision. Stargardt is inherited autosomally recessively, which means that two copies of the ABCA4 gene must be inherited from both parents in order for symptoms to occur. Those who inherit only one copy are called carriers. They do not show symptoms and can pass on the gene to future generations.
Stargardt can be caused through mutations in the ABCA4 genes. The severity of the disease depends on which mutation occurred.
What symptoms are associated with Stargardt disease?
Stargardt disease is a condition that affects your central vision. This means you are unable to see fine detail and objects in front of yourself. The symptoms may vary depending on who is suffering but can include:
Blurred or distorted vision, especially when looking at direct objects.
Text that is distorted or blurred, and appears smudged.
Color vision loss where colors are washed out or faded. You may have difficulty recognizing faces or objects familiar to you as soon as they appear in your field of view.
A sensitivity to bright lights or difficulty adapting.
Visual illusions or hallucinations, such as seeing shapes or patterns that don't exist. Vision loss that is progressive over time could lead to legal blindness.
Stargardt is a disease that affects both eyes equally. Symptoms usually appear in childhood or early adolescence, but can also occur later in life. Stargardt disease is not universally experienced by all patients. Its severity and progression vary greatly among individuals.
