Ciliopathies are caused by mutations in genes encoding proteins required for cilia organization or function, such as RPGR (retinitis pigmentosa GTPase regulator) [5], SPATA7 (spermatogenesis associated 7) [6], POC1B (POC1 centriolar protein B) [7], FAM161A (family with sequence similarity 161, member A) [8, 9], LCA5 (Leber congenital amaurosis 5)[10], CEP290 (centrosomal protein 290kDa) [11] and RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1) [12], which are a prominent cause of severe blindness disorders due to photoreceptor degeneration. The gene discussed is CEP290; the disease is blindness (disorder).