Genetic mutation of the human BEST1 gene causes bestrophinopathies, which consist of a spectrum of retinal degeneration disorders including Best vitelliform macular dystrophy (BVMD)1,2, autosomal recessive bestrophinopathy (ARB)3, adult-onset vitelliform dystrophy (AVMD)4,5, autosomal dominant vitreoretinochoroidopathy (ADVIRC)6, and retinitis pigmentosa (RP)7. Here, BEST1 is linked to autosomal recessive bestrophinopathy.