Like in most BBS genes mutations in CEP290, also known as BBS14, can lead to other, mostly more severe ciliopathies, such as nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), and Joubert syndrome (JBTS) but also to non-syndromic retinal dystrophies, namely, LCA (Forsythe and Beales, 2013; McConnachie et al., 2021; Delvallée and Dollfus, 2023). Here, CEP290 is linked to Meckel syndrome, type 1.