In this study, one patient from family OFT-00177 with EoHM and retinal dystrophy had two VUS, one in CEP290 (a gene related to Bardet-Biedl syndrome, Meckel syndrome, Joubert syndrome and Senior-Løken syndrome) and the other in PCDH15 (a gene responsible for Usher syndrome). This evidence concerns the gene PCDH15 and Joubert syndrome.