For instance, OPA3 mutations are associated with optic atrophy [24], BEST1 mutations are associated with best vitelliform macular dystrophy (BEST) [27–30], TSPAN12 mutations are associated with familial exudative vitreoretinopathy (FEVR) [35], PAX6 mutation are associated with aniridia and Peter’s anomaly [48], and CYP1B1 mutations are associated with glaucoma [45]. The gene discussed is PAX6; the disease is Best vitelliform macular dystrophy.