Associated Papers
Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.
Ibrahim M et al.
Ophthalmology Science, 2026
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
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
Parameswarappa DC et al.
Ophthalmic Genetics, 2024
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.
Wang J et al.
Signal Transduction and Targeted Therapy, 2024
38653979 (PubMed )
Supplement: 41392_2024_1806_MOESM2_ESM.docx
Subretinal deposits in young patients treated with voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy.
Lopez J et al.
The British Journal of Ophthalmology, 2023
Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa.
Kwak JJ et al.
Yonsei Medical Journal, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2022
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Pierrache LHM et al.
Retina (philadelphia, Pa.), 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
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
Katagiri S et al.
Molecular Vision, 2018
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
Hull S et al.
The British Journal of Ophthalmology, 2016
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Khan AO et al.
The British Journal of Ophthalmology, 2014
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