In this study, we conducted a NGS targeted sequencing approach comprising all exons of 76 retinal disease genes, three entire genes (USH2A, ABCA4 and CEP290), and two deep-intronic regions located in OFD1 and PRPF31, to identify the genetic cause of 29 Spanish patients of IRDs, most of them carrying a monoallelic variant in USH2A, ABCA4 and CEP290. The gene discussed is OFD1; the disease is respiratory distress syndrome in premature infants.