Associated Papers
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
Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Testa F et al.
Eye (london, England), 2024
38627549 (PubMed )
Supplement: 41433_2024_3065_MOESM1_ESM.xlsx › chart
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
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.
Testa F 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
Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients.
Testa F et al.
Translational Vision Science & Technology, 2021
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