BEST1 and autosomal recessive bestrophinopathy: Most BEST1 mutations associated with Best’s disease are missense mutations [54], but another bestrophinopathy is late onset, referred to as adult-onset vitelliform macular dystrophy (AVMD; OMIM: 608161), and in addition to mutations in BEST1 that lead to AVMD there are known mutations in three other genes associated with photoreceptors.