Bestrophin-1 (BEST1) gene mutations may cause a variety of ocular phenotypes called “bestrophinopathies.” Although a variety of clinical presentations have been described in the literature [1], five known bestrophinopathies include autosomal dominant best or best vitelliform macular dystrophy (BVMD), adult-onset vitelliform macular dystrophy (AVMD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), autosomal recessive bestrophinopathy (ARB), and retinitis pigmentosa (RP). Here, BEST1 is linked to autosomal recessive bestrophinopathy.