Associated Papers
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.
Panneman DM et al.
Genes, 2025
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Abdul R et al.
Investigative Ophthalmology & Visual Science, 2025
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Han J et al.
Korean Journal of Ophthalmology : Kjo, 2023
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2022
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC et al.
American Journal of Ophthalmology, 2019
Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.
Ward R et al.
Frontiers in Cell and Developmental Biology, 2018
The Role of the Human Visual Cortex in Assessment of the Long-Term Durability of Retinal Gene Therapy in Follow-on RPE65 Clinical Trial Patients.
Ashtari M et al.
Ophthalmology, 2017
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.
Bennett J et al.
Lancet (london, England), 2016
Promising and delivering gene therapies for vision loss.
Carvalho LS et al.
Vision Research, 2015
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.
Maguire AM et al.
Lancet (london, England), 2009
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
Hauswirth WW et al.
Human Gene Therapy, 2008
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Maguire AM et al.
The New England Journal of Medicine, 2008
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F et al.
Investigative Ophthalmology & Visual Science, 2007
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Morimura H et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
[Molecular-genetic basis of tapetoretinal degeneration].
Dzhemileva LU et al.
Molekuliarnaia Biologiia, 0