In six of these eight patients, this variant was found alongside another pathogenic/likely pathogenic variant (Supplemental Table S2): two patients with rod-cone dystrophy (who were heterozygous and homozygous for mutations in RHO and PDE6B, respectively), one patient with early childhood–onset retinal dystrophy (who was homozygous for a mutation in WDR19), one patient with fundus albipunctatus (who was homozygous for a mutation in RLBP1), and two patients with Usher syndrome (who were both compound heterozygous, one for a variant in USH2A and the other for a variant in CDH23). The gene discussed is RLBP1; the disease is Cone rod dystrophy.