[10, 11] Autosomal recessive bestrophinopathy (ARB) may result from a total absence (null phenotype) of functional BEST1 protein in the RPE, [12, 13] improper localization to the cell membrane with intact anion channel activity, [14] or lack of the anion channel activity [15]. The gene discussed is BEST1; the disease is autosomal recessive bestrophinopathy.