Collectively, 59% of the patients with pericentral RP harbored mutations in BBS2, CEP290, and USH2A which, besides non-syndromic forms, are responsible for Bardet-Biedl syndrome (www.omim.org/entry/606151), Joubert, Meckel and Senior-Loken syndromes (www.omim.org/entry/610142), and Usher syndrome type 2 (www.omim.org/entry/608400), respectively. The gene discussed is BBS2; the disease is Bardet-Biedl syndrome.