Letter to the editor relating to Stingl K, Priglinger C, Herrmann P. “RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec” Klin Monbl Augenheilkd 2024; 241(03): 259–265. DOI: 10.1055/a-2227-3671

Recently I read with interest the paper by Stingl K, Priglinger C, Herrmann P. RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec [1]. I came across this review paper while I prepared myself a manuscript on RPE65-IRD [2].

Publication History

Article published online:
24 March 2025

• References

• 1 Stingl K, Priglinger C, Herrmann P. RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec. Klin Monbl Augenheilkd 2024; 241: 259-265
• 2 Lorenz B. Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in RPE65. Med Genet 2025; 37: 47-56
• 3 Lorenz B, Künzel SH, Preising MN. et al. Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting. Ophthalmology 2024; 131: 161-178
• 4 Lorenz B, Gyürüs P, Preising M. et al. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest Ophthalmol Vis Sci 2000; 41: 2735-2742
• 5 Lorenz B, Tavares J, van den Born LI. et al. Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey. Ophthalmic Res 2023; 66: 727-748
• 6 Lorenz B, Poliakov E, Schambeck M. et al. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. Invest Ophthalmol Vis Sci 2008; 49: 5235-5242
• 7 Chung DC, Bertelsen M, Lorenz B. et al. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. Am J Ophthalmol 2019; 199: 58-70
• 8 Gerhardt MJ, Priglinger CS, Rudolph G. et al. Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis. Biomedicines 2022; 11: 103
• 9 Kolesnikov AV, Tang PH, Kefalov VJ. Examining the Role of Cone-expressed RPE65 in Mouse Cone Function. Sci Rep 2018; 8: 14201