More than 250 BEST1 gene mutations have been reported to date in different autosomal dominant (Best’s disease; BD, adult-onset vitelliform macular dystrophy; AVMD, Autosomal dominant vitreoretinochoroidopathy; ADVIRC, retinitis pigmentosa; RP), and an autosomal recessive (autosomal recessive bestrophinopathy; ARB) bestrophinopathies (HGMD database). This evidence concerns the gene BEST1 and Best vitelliform macular dystrophy.