Previously, both these mutations were reported to be associated with more severe forms of CEP290-associated diseases, i.e., the p.Gly1890* variant with cerebello-ocular-renal syndrome (CORS) and Joubert Syndrome, whilst the p.Lys1575* variant with CORS, Senior-Løken syndrome and Meckel-Grüber syndrome-like (reviewed in [9]). Here, CEP290 is linked to Senior-Loken syndrome.