Only recently, the first BPS variants associated with IRDs have been identified in BBS1 (Fadaie et al., 2022) and ABCA4 (Corradi et al., 2022), while the recognition of the BPS is crucial for the formation of the lariat structure prior to intron excision from pre-mRNA. The gene discussed is BBS1; the disease is respiratory distress syndrome in premature infants.