Associated Papers
Gene therapy outcomes in young patients with RPE65-retinal degeneration.
Stephenson KAJ et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Mild RPE65-Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation.
Wolfram L et al.
Translational Vision Science & Technology, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 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
Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosis.
Tayyib A et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Lee H et al.
Molecular Genetics & Genomic Medicine, 2025
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.
de Freitas Cenachi SP et al.
Molecular Vision, 2025
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
The qMini assay identifies an overlooked class of splice variants.
Guan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
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
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
Therapy with voretigene neparvovec. How to measure success?
Stingl K et al.
Progress in Retinal and Eye Research, 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
The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil.
Ferraz Sallum JM et al.
Ophthalmic Genetics, 2022
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Motta FL et al.
Ophthalmic Genetics, 2021
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.
Oh JK et al.
Scientific Reports, 2020
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Motta FL et al.
Genes, 2019
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
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Porto FBO et al.
Genes, 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
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Jacobson SG et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2012
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Ali M et al.
Investigative Ophthalmology & Visual Science, 2011
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
Weleber RG et al.
Investigative Ophthalmology & Visual Science, 2011
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
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
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2009
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2008
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.
Burt DW et al.
Molecular Vision, 2003
Genetic analysis of RPE65: from human disease to mouse model.
Redmond TM et al.
Methods in Enzymology, 2000
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