Our truncating variant (within the 1243–1551 amino acids group), presented with the earliest disease onset of all the reported cases in the literature and the clinical diagnosis of LCA/EOSRD, in both siblings; further extending the genetic and clinical spectrum and validating RP1 as a rare cause of LCA/EOSRD. The gene discussed is RP1; the disease is severe early-childhood-onset retinal dystrophy.