One affected family member (III-2) was also subject to WGS, enabling us to minimise the possibility that non-coding or structural variants undetectable by targeted gene panel testing were causative.13 14 In light of this evidence we suggest that the RDH12:c.763delG is a pathogenic allele, and results in rod-cone dystrophy, but with variable expression. This evidence concerns the gene RDH12 and cone-rod dystrophy.