This variant has been described in several studies on RPE65-related retinal dystrophies as a disease-causing mutation [12,13,14,15,16] and has been classified as pathogenic according to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/RCV000085218.21, accessed on 25 June 2024). Here, RPE65 is linked to Retinal dystrophy.