Furthermore, nanopore sequencing deciphered pathogenic SVs in centrosomal protein 78 (CEP78) in patients with autosomal recessive cone-rod dystrophy with hearing loss [7], and SMRT sequencing has characterised pathogenic variants, including SVs, within the highly complex opsin L and M encoding OPN1LW/OPN1MW gene cluster from patients with colour vision impairment [48]. Here, CEP78 is linked to autosomal recessive cone rod dystrophy.