Although previously regarded as non-pathogenic, we considered the most frequently causative variant, EYS v1, as pathogenic based on more evidence25,26, the criteria of the ACMG guidelines22 that were launched in 2015, and new causative variants of RP, including Alu element insertion in RP1 that have recently been identified27. This evidence concerns the gene RP1 and retinitis pigmentosa 1.