In the proband, molecular analysis detected two sequence variants of the BEST1 gene in the heterozygous state: c.301C>A (p.Pro101Thr) and c.638A>G (p.Glu213Gly); both have already been described in the literature in association with BVMD [25,26]. The gene discussed is BEST1; the disease is Best vitelliform macular dystrophy.