In our study, we investigated the genetics of cone-rod dystrophy (CRD), a progressive inherited retinal disorder by collecting and performing whole-exome sequencing of a cohort of CRD patients whose mutations remain undetermined after known retinal disease-related gene panel screening.22 Among them, one proband carrying bi-allelic mutations in IFT81 was identified. This evidence concerns the gene IFT81 and Cone rod dystrophy.