ABCA4 Responsible Stargardt Disease
What is Stargardt Disease and How is ABCA4 Responsible?
Stargardt disease is an autosomal recessive maculopathy. This means that the gene for Stargardt disease is not related to the gender of the individual, requires two copies of the gene in order to arise, and affects the center of the retina which is responsible for detailed vision. (1)
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When ABCA4 is functioning normally it is a transporter for the ATP-binding cassette (ABC) gene in certain areas of the eye. ABCA4 facilitates the removal of potentially toxic compounds, and when nonfunctional those potentially toxic compounds can lead to the symptoms affecting those with Stargardt disease. (2)
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