In this way, it has been possible to study the disease-associated mechanisms caused by mutations in genes encoding for Retinitis Pigmentosa GTPase regulator (RPGR), receptor expression enhancing protein 6 (REEP6) and X-linked Retinitis Pigmentosa 2 (RP2) [47,48,49,50] as well as by an intronic mutation in the CEP290 gene encoding for a centrosome-cilia protein, responsible for LCA [51]. Here, REEP6 is linked to Leber congenital amaurosis.