Mutations in the Bestrophin 1 (BEST1, NM_004183.4) gene cause a variety of retinal dystrophies with distinct clinical features including autosomal dominant Best vitelliform macular dystrophy (BVMD, MIM 153700) [1], autosomal dominant vitreo-retinochoroidopathy (ADVIRC, MIM 193220) [2], autosomal dominant MRCS syndrome (microcornea, retinal dystrophy, cataract, posterior staphyloma, MIM 193220) [3], autosomal dominant retinitis pigmentosa (MIM 613194) [4] and autosomal recessive bestrophinopathy (ARB, MIM 611809). The gene discussed is BEST1; the disease is autosomal recessive bestrophinopathy.