Clinical management may also be directly influenced (renal disease, SCA7, CLN3) (Ellingford et al., 2015; Hamel, 2007), and in a minority of cases treatment initiated (e.g., adult Refsum disease and gyrate atrophy) (Orphanet: Gyrate atrophy of choroid & retina; Orphanet: Refsum disease), which, for recessive RPE65‐associated IRD, may now involve gene‐replacement therapy (Office of the Commissioner Press Announcements; Russell et al., 2017). This evidence concerns the gene RPE65 and Refsum disease.