ArticleInvestigative ophthalmology & visual science2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Article in Investigative ophthalmology & visual science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Delayed foveal atrophy following early visual improvement after voretigene neparvovec gene therapy in a child.Eye (London, England) · 2026Article
- Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Voretigene Neparvovec Gene Therapy in Clinical Practice: A 12-Month, Single-Center, In-Depth Analysis of Beneficial and Adverse Drug Effects.Translational vision science & technology · 2026Article
- Expert Consensus on Characteristics, Etiology, and Management of Chorioretinal Atrophy in Patients Treated with Voretigene Neparvovec.Ophthalmology science · 2026Article
- RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.Investigative ophthalmology & visual science · 2025Article
- Relatively preserved retinal function in RPE65-associated retinopathy: a case report.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations inMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Genetics and phenotypes ofMolecular vision · 2025Article
- Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.Eye (London, England) · 2024Article
- Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.Genes · 2024Article
- Ten Years of Experience With a Telemedicine Platform Dedicated to Health Care Personnel: Implementation Report.JMIR medical informatics · 2024Article
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- Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.International journal of molecular sciences · 2023Review
- Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.Korean journal of ophthalmology : KJO · 2023Article
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- Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
26 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To investigate the course of inherited retinal degenerations (IRD) due to mutations in the RPE65 gene. Methods: This longitudinal multicentric retrospective chart-review study was designed to collect best corrected visual acuity (BCVA), Goldman visual field, optical coherence tomography (OCT), and electroretinography (ERG) measurements. The data, including imaging, were collected using an electronic clinical research form and were reviewed at a single center to improve consistency. Results: From an overall cohort of 60 Italian patients with RPE65-associated IRD, 43 patients (mean age, 27.8 ± 19.7 years) were included and showed a mean BCVA of 2.0 ± 1.0 logMAR. Time-to-event analysis revealed a median age of 33.8 years and 41.4 years to reach low vision and blindness based on BCVA, respectively. ERG (available for 34 patients) showed undetectable responses in most patients (26; 76.5%). OCT (available for 31 patients) revealed epiretinal membranes in five patients (16.1%). Central foveal thickness significantly decreased with age at a mean annual rate of -0.6%/y (P = 0.044). We identified 43 different variants in the RPE65 gene in the entire cohort. Nine variants were novel. Finally, to assess genotype-phenotype correlations, patients were stratified according to the number of RPE65 loss-of-function (LoF) alleles. Patients without LoF variants showed significantly (P < 0.05) better BCVA compared to patients with one or two LoF alleles. Conclusions: We described the natural course of RPE65-associated IRD in an Italian cohort showing for the first time a specific genotype-phenotype association. Our findings can contribute to a better management of RPE65-associated IRD patients.
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