While clinical and laboratory indicators of renal involvement may not be clearly detectable at onset, the early identification of pathogenic variants in genes carrying a strong risk of renal involvement (such as CEP290) allow for the appropriate surveillance for renal issues since the first years of life, while mutations in genes that rarely associate to kidney defects (e.g., CPLANE1) can reassure families on a very low risk of renal failure [1, 2]. This evidence concerns the gene CPLANE1 and Renal insufficiency.