CEP290 is a centrosomal protein essential for ciliogenesis and ciliary function. It plays critical roles in early ciliogenesis by regulating centriolar satellite disappearance and primary ciliary vesicle transition, and is required for centrosomal recruitment of RAB8A and proper localization of centriole satellite proteins 1. CEP290 participates in the ciliary transition zone as part of the tectonic-like complex regulating tissue-specific ciliogenesis and ciliary membrane composition 2. The protein controls BBSome complex integrity and ciliary cargo targeting 3, and activates ATF4-mediated transcription 4. CEP290 mutations cause multiple syndromic ciliopathies: Joubert syndrome (characterized by cerebellar-brainstem malformation), Leber congenital amaurosis type 10 (severe early-onset retinal dystrophy), Bardet-Biedl syndrome, Meckel syndrome, and Senior-Loken syndrome 52. Loss of CEP290 function is particularly associated with retinal dystrophy and chr12 kidney disease, requiring closer clinical surveillance 52. The IVS26 splice variant accounts for a significant disease subtype. Recent CRISPR-Cas9 gene editing therapy (EDIT-101) targeting the IVS26 variant demonstrated safety and photoreceptor function improvement in clinical trials, representing a promising therapeutic approach for CEP290-associated inherited retinal degeneration 67.