Maculadystrofier

Maculadystrofier, also known as maculadystrophies, are a group of rare genetic disorders characterized by the progressive loss of vision due to the accumulation of abnormal deposits in the macula, the central part of the retina responsible for sharp, detailed vision. These deposits can be in the form of drusen, lipofuscin, or other materials, which interfere with the normal functioning of the retina.

There are several types of maculadystrofies, including:

1. Stargardt disease: This is the most common form of maculadystrophy, affecting about 1 in 10,000 people. It is caused by mutations in the ABCA4 gene and is characterized by the accumulation of lipofuscin in the retina.

2. Best disease: This is a rare, inherited disorder that affects the retina's photoreceptors, leading to the accumulation of drusen and lipofuscin. It is caused by mutations in the BEST1 gene.

3. Pattern dystrophy: This is a rare disorder characterized by the accumulation of drusen in the retina, leading to a distinctive pattern of vision loss.

Maculadystrofies are typically diagnosed through a combination of clinical examination, genetic testing, and imaging studies such as optical coherence tomography (OCT). There is currently no cure for maculadystrofies, but treatments may include vitamin supplements, antioxidants, and, in some cases, gene therapy. Supportive care, such as low vision aids and rehabilitation, may also be beneficial for individuals with these disorders.