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Best disease is a genetic eye disorder that can cause progressive vision loss. It is also called vitelliform macular dystrophy because the disorder disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.
Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision and may experience blurry or distorted vision. Vitelliform macular dystrophy does not affect side (peripheral) vision or the ability to see at night.
Mutations in the BEST1 gene are responsible for Best disease. The BEST1 gene provides instructions for making a protein called bestrophin. Although its exact function is uncertain, this protein likely acts as a channel that controls the movement of negatively charged chloride ions into or out of cells in the retina. Mutations in the BEST1 gene probably lead to the production of an abnormally shaped channel that cannot regulate the flow of chloride. Researchers have not determined how these malfunctioning channels are related to the buildup of lipofuscin in the macula and progressive vision loss.
Currently, there is no treatment for Best disease.