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. Here, LCA5 is linked to respiratory distress syndrome in premature infants.