Whole-exome sequencing (WES) has proven to be very effective in the discovery of genetic defects in inherited retinal diseases.10–14 Here, we report the identification by WES of mutations in POC1B (MIM 614784), encoding a protein previously associated with basal body stability,15 underlying autosomal-recessive COD or CRD. In addition, we provide an integrated functional approach to substantiate the causality of the identified mutations.