For example, IFT140 and IFT172 mutations are associated with a mild thorax phenotype but a very high frequency of cystic and nephronophthisis-like renal changes and childhood-onset retinal degeneration, whereas DYNC2H1 mutations appear to be frequently devoid of associated extra-skeletal findings except perhaps for retinal impairment detected by ERG with no reported clinically relevant visual impairment (3,8,9). This evidence concerns the gene IFT140 and nephronophthisis.