For example, Centrosomal protein of 290 kDa (CEP290, also known as NPHP6), which represents the most common cause of LCA identified to date [15,16], is also associated with other diseases, such as retinitis pigmentosa [17], Meckel syndrome (MKS) [18,19], SLSN [20], Bardet-Biedl syndrome (BBS) [21] and JBTS [22,23]. Here, CEP290 is linked to Joubert syndrome.