This is exemplified by the bestrophinopathies, which are linked to variants in the bestrophin-1 (BEST1) gene but are inherited in either an autosomal dominant (as seen in Best vitelliform macular dystrophy and vitreoretinochoroidopathy) or in an autosomal recessive manner (as seen in bestrophinopathy, autosomal recessive)23. Here, BEST1 is linked to autosomal recessive bestrophinopathy.