The clinical features in patients with mutations in BEST1 seem to cluster into at least four major categories, as reviewed by Marmorstein et al. [6]: Best vitelliform macular dystrophy or Best disease (BVMD, OMIM 153700), autosomal dominant vitreoretinochoroidopathy (OMIM 193220), autosomal recessive bestrophinopathy (ARB, OMIM 611809), and adult-onset vitelliform macular degeneration (OMIM 608161). Here, BEST1 is linked to autosomal recessive bestrophinopathy.