Infantile cohort. A total of 37% had mutations causative for ciliopathies (11.1% Usher syndrome: USH2A (5.6%), CDH23 (3.7%), PCDH15 (1.9%); 9.3% Joubert or Senior Loken syndromes:: CEP290 (5.6%), IQCB1 (1.9%), C5orf42 (1.9%); 9.3% Bardet–Biedl syndrome: BBS1 (3.7%), BBS10 (3.7%), BBS2 (1.9%)), while 29.6% had vitreoretinal syndromic disorders (including causative mutations in CTNNB1, KIF11, LAMA1, NDP, PACS2, RNU4ATAC). This evidence concerns the gene PACS2 and Bardet-Biedl syndrome.