ArticleInvestigative ophthalmology & visual science2020
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Article in Investigative ophthalmology & visual science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02714816 (Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65), which is not on this map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
Who cites it
21 citing papers in PubMed, 44 citations in OpenAlex.
- Therapeutic Potential of Partial Retinoid Agonists against Vertebrate Rhodopsin Misfolding Disorders.ACS omega · 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
- Foveal detachment in voretigene neparvovec administration: essential step or avoidable risk?Eye (London, England) · 2025Article
- Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.Investigative ophthalmology & visual science · 2025Article
- Patient-Reported Experience Measurements From Individuals With Inherited Retinal Disorders Involved in Observational Research.Translational vision science & technology · 2024Article
- Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.American journal of ophthalmology · 2024Article
- Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.Investigative ophthalmology & visual science · 2024Article
- RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.Ophthalmology · 2023Article
- 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
- Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.Investigative ophthalmology & visual science · 2022Article
- Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.The British journal of ophthalmology · 2022Review
- RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.Investigative ophthalmology & visual science · 2022Article
- The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022Review
- Structural evaluation in inherited retinal diseases.The British journal of ophthalmology · 2021Review
- Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.Journal of clinical medicine · 2021Article
- KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.American journal of ophthalmology · 2021Article
- RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.Orphanet journal of rare diseases · 2021Article
- Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.Orphanet journal of rare diseases · 2021Article
- Validation of a Vision-Guided Mobility Assessment forTranslational vision science & technology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 4 countries.
Funding
Abstract
Purpose: RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals. Methods: We performed cross-sectional and longitudinal quantitative and qualitative assessments of retinal architecture in RPE65-RD using spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging. Twenty-six subjects (mean age, 14.8 years, range, 5-24 years) with RPE65-RD underwent SD-OCT and FAF imaging, of whom 14 subjects were followed up over time. Foveal thickness (FT), outer nuclear layer thickness (ONLT), ellipsoid zone width (EZW), and ellipsoid zone area (EZA) were calculated where possible. These were correlated with age, best corrected visual acuity (BCVA), and central 30° retinal sensitivity (V30). Intra-observer agreement, test-retest repeatability, and interocular symmetry were also investigated. Results: We identified structural interocular symmetry, the presence of autofluorescence in 46% (12/26) of subjects, and the presence of foveal hypoplasia (associated with significantly worse BCVA) in 50% of subjects. EZW and EZA were measurable in 67% (35/52) and 37% (19/52) of eyes, respectively, with both demonstrating good agreement on repeated measurement. The annual rate of progression using EZW was -300.63 µm/year, and -1.17 mm2/year in EZA. EZW was found to have a statistically significant correlation with BCVA and V30. Conclusions: We identified the presence of autofluorescence in half of our subjects, with foveal hypoplasia also noted in half of our cohort. EZW, and to a lesser extent EZA, were robust measures of retinal degeneration and represent valuable metrics to determine the impact of intervention. (ClinicalTrials.gov number NCT02714816.).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.