To date, over 100 CEP290 mutations have been identified leading to a spectrum of phenotypes ranging from isolated early-onset retinal dystrophy [6] and Leber congenital amaurosis (LCA, MIM#611755) [4] to more severe syndromes such as Senior Løken syndrome (SLSN, MIM#610189) [7], Joubert syndrome (JBTS, MIM#213300) or Meckel–Gruber syndrome (MGS, MIM#611134 [8]). The gene discussed is CEP290; the disease is Senior-Loken syndrome.