CEP290 and severe early-childhood-onset retinal dystrophy: Renal involvement (nephronophthisis which can lead to end-stage renal failure) may be seen in some genetic subtypes of LCA/EOSRD (eg, IQCB1, IFT140 and CEP290) as part of syndromes including Senior-Loken Syndrome and Joubert Syndrome.20–22 Early molecular diagnosis can help prioritise which children should have ongoing systemic investigations.