Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposes.
Weber VJ et al.
Jci Insight, 2025
Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.
Balasov M et al.
Genetics, 2025
Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.
Merle DA et al.
Translational Vision Science & Technology, 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
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
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.
Vázquez-Domínguez I et al.
Molecular Therapy. Nucleic Acids, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Partial rescue of the full-field electroretinogram in patients with RPE65-related retinal dystrophy following gene augmentation therapy with voretigene neparvovec-rzyl.
Amato A et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.
Lorenz B et al.
Ophthalmology, 2024
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.
Stepanova A et al.
Genes, 2023
The qMini assay identifies an overlooked class of splice variants.
Guan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center.
Kiraly P et al.
Biomolecules, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.
Priluck AZ et al.
Ophthalmic Genetics, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis.
Gerhardt MJ et al.
Biomedicines, 2022
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
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Vázquez-Domínguez I et al.
Cells, 2022
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis.
Cho EH et al.
Orphanet Journal of Rare Diseases, 2022
The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil.
Ferraz Sallum JM et al.
Ophthalmic Genetics, 2022
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.
Vázquez-Domínguez I et al.
Stem Cell Research, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2022
Genetic testing and diagnosis of inherited retinal diseases.
Lam BL et al.
Orphanet Journal of Rare Diseases, 2021
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Pierrache LHM et al.
Retina (philadelphia, Pa.), 2020
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
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2020
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Li S et al.
Acta Ophthalmologica, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Monitoring progression of retinitis pigmentosa: current recommendations and recent advances.
Menghini M et al.
Expert Opinion on Orphan Drugs, 2020
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Yang U et al.
Jama Ophthalmology, 2019
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy.
Ramtohul P et al.
Ophthalmology. Retina, 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
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2018
Gene therapy and genome surgery in the retina.
DiCarlo JE et al.
The Journal of Clinical Investigation, 2018
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2018
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
Katagiri S et al.
Molecular Vision, 2018
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