ArticleBMJ open ophthalmology2020
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy.
Article in BMJ open ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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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.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.Investigative ophthalmology & visual science · 2025Article
- Retinoid dynamics in vision: from visual cycle biology to retina disease treatments.Pharmacology & therapeutics · 2025Review
- Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.Human gene therapy · 2023Article
- Retinoid therapy restores eye-specific cortical responses in adult mice with retinal degeneration.Current biology : CB · 2022Article
- Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.The British journal of ophthalmology · 2022Review
- The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Stem cell transplantation as a progressing treatment for retinitis pigmentosa.Cell and tissue research · 2022Review
- A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.Orphanet journal of rare diseases · 2021Article
- Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Review
- Review
- Pathways and disease-causing alterations in visual chromophore production for vertebrate vision.The Journal of biological chemistryReview
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesNo therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one feature associated with this dominant variant. Our objective: to assess whether in a proof-of-concept study, oral synthetic 9 METHODS AND ANALYSIS: A phase 1b proof-of-concept clinical trial was conducted involving five patients with advanced disease, aged 41-68 years. Goldmann visual fields (GVF) and visual acuities (VA) were assessed for 6-12 months after 7-day treatment, patients receiving consecutive oral doses (40 mg/m
resultsPathological effects of D477G variant were preliminarily assessed by electroretinography in mice expressing AAV-delivered D477G RPE65, by MTS [3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxyme- thoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium] assays on RPE viability and enzyme activity in cultured cells. In addition to a mild dominant effect reflected in reduced electroretinographics in mice, and reduced cellular function
conclusionFamilies with D477G variant have been identified in Ireland, the UK, France, the USA and Canada. Effects of single 7-day oral retinoid supplementation lasted at least 6 months, possibly giving visual benefit throughout remaining life in patients with advanced disease, where gene therapy is unlikely to prove beneficial.
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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.