Two additional maculopathies were characterized within 3 consanguineous families with homozygous BEST1 variants, 2 families with autosomal recessive Bestrophinopathy (OMIM:611,809) and one with Best vitelliform macular dystrophy (BVMD) (OMIM:153,700) (Additional file 2). Here, BEST1 is linked to Best vitelliform macular dystrophy.