Best vitelliform macular dystrophy (Best disease, BVMD) has autosomal dominant inheritance and is the most common disease associated with mutations in the gene BEST1. Four other disease phenotypes have been described in association with BEST1 mutations: adult onset vitelliform macular dystrophy, autosomal recessive bestrophinopathy, autosomal dominant vitreoretinochoroidopathy and retinitis pigmentosa. Here, BEST1 is linked to Best vitelliform macular dystrophy.