Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
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
40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment
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
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
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2021
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
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Mo G et al.
Plos One, 2014
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
Singh HP et al.
Investigative Ophthalmology & Visual Science, 2009
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].
Hamel CP et al.
Journal Francais D'ophtalmologie, 2000
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