Stargardt

Stargardt disease is a type of macular degeneration that is inherited. It is also known as Stargardt macular dystrophy, juvenile macular degeneration, or simply Stargardt's. The disease is named after the German ophthalmologist Karl Stargardt, who first described it in the early 20th century.

Symptoms[edit | edit source]

The most common symptom of Stargardt disease is a decrease in visual acuity, usually to the level of legal blindness. This is often accompanied by color blindness and sensitivity to light. The disease typically begins in childhood or adolescence, but can also start in adulthood.

Causes[edit | edit source]

Stargardt disease is caused by mutations in the ABCA4 gene. This gene is responsible for producing a protein that helps to transport vitamin A in the retina. When the ABCA4 gene is mutated, it leads to a buildup of a toxic substance called lipofuscin in the retina, which damages the macula and leads to vision loss.

Diagnosis[edit | edit source]

Diagnosis of Stargardt disease is typically made through a combination of eye examination, genetic testing, and imaging tests such as optical coherence tomography and fluorescein angiography.

Treatment[edit | edit source]

There is currently no cure for Stargardt disease, but there are treatments that can help to slow the progression of the disease and manage symptoms. These include vitamin A supplementation, low vision aids, and occupational therapy.

Research[edit | edit source]

Research into Stargardt disease is ongoing, with scientists exploring potential treatments such as gene therapy, stem cell therapy, and drug therapy.

References[edit | edit source]

Stargardt Resources
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