Therefore, the ontology of early onset retinal dystrophies—and IRDs in general—has changed in recent years [13], and many diseases are now described and diagnosed according to their genotype (i.e., ABCA4-, KCNV2-, RPE65-associated retinopathy, bestrophinopathies—IRDs associated with disease-causing variants in BEST1) [14,15,16,17,18]. The gene discussed is BEST1; the disease is respiratory distress syndrome in premature infants.