Over 350 mutations in BEST1 have been identified and result in clinically distinct diseases including Best vitelliform macular dystrophy (BVMD), autosomal recessive Bestrophinopathy (ARB), autosomal dominant vitreoretinochoroidopathy (ADVIRC) and retinitis pigmentosa (RP) [3,4]. Here, BEST1 is linked to autosomal dominant vitreoretinochoroidopathy.