Since then, over 250 distinct BEST1 mutations have been linked to BD, and later to a lesser extent also to three other distinct retinal pathologies (https://databases.lovd.nl/shared/genes/BEST1, https://www.ncbi.nlm.nih.gov/clinvar), namely the autosomal dominant adult-onset vitelliform macular dystrophy (AVMD) (Krämer et al., 2000), the autosomal dominant vitreoretinal choroidopathy (ADVIRC) (Yardley et al., 2004) and the autosomal recessive bestrophinopathy (ARB) (Burgess et al., 2008). Here, BEST1 is linked to autosomal recessive bestrophinopathy.