Bestrophinopathies are a group of different retinal phenotypes caused by pathogenic mutations in the BEST1 gene. The most common bestrophinopathy is Best vitelliform macular dystrophy, or Best disease, which is a progressive macular dystrophy with variable age of onset.

Best disease is an inherited eye condition associated with progressive degeneration of the macula. It is one of the most common inherited forms of macular degeneration.