What causes Best vitelliform macular dystrophy ?
What causes Best vitelliform macular dystrophy? Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD.