Stargardt disease

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Stargardt disease (pronounced: stahr-GAHRDT) is a type of inherited juvenile macular degeneration that causes progressive vision loss. The disease typically starts before the age of 20 and is named after the German ophthalmologist Karl Stargardt, who first described it in the early 20th century.

Etymology

The term "Stargardt disease" is derived from the name of the German ophthalmologist Karl Stargardt, who first described the condition in 1909.

Symptoms

The most common symptom of Stargardt disease is a gradual loss of central vision, usually in both eyes. Other symptoms may include difficulty adapting to low light levels, decreased color vision, and blurry vision.

Causes

Stargardt disease is caused by mutations in the ABCA4 gene. This gene provides instructions for making a protein that is essential for normal vision. Mutations in the ABCA4 gene disrupt the function of this protein, leading to the accumulation of a toxic substance in the retina that damages photoreceptor cells and leads to vision loss.

Diagnosis

Diagnosis of Stargardt disease is based on a thorough clinical evaluation, a detailed patient history, and specialized tests such as electroretinography (ERG), optical coherence tomography (OCT), and genetic testing.

Treatment

There is currently no cure for Stargardt disease. Treatment is aimed at slowing the progression of the disease, managing symptoms, and helping individuals to cope with the visual impairment. This may include the use of low-vision aids, occupational therapy, and counseling.

Prognosis

The prognosis for individuals with Stargardt disease varies. Some people retain enough peripheral vision to carry out daily activities, while others may become legally blind.

See also

References


External links

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