Consistent with the high prevalence of CRB1 p.Cys948Tyr and p.Ser1049Aspfs*40, RDH12 p.Leu99Ile, and LCA5 p.Glu415* mutations, the allelic diversity in the Chilean population of pediatric IRDs was even more limited than the locus heterogeneity. The gene discussed is RDH12; the disease is respiratory distress syndrome in premature infants.