SynthesisAdvances in therapy2022
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Synthesis in Advances in therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 43 citations in OpenAlex.
- rAAV production cost analysis: Indication-specific cost per dose and reduction strategies.Gene therapy · 2026Article
- Structural, functional and patient-reported 24-month outcomes of voretigene neparvovec in Portuguese patients with RPE65-associated disease.Eye (London, England) · 2026Article
- Direct Chemical Reprogramming of Human Fibroblasts into Retinal Progenitor-like Cells for Ocular Delivery.Journal of functional biomaterials · 2026Article
- A gel-forming antioxidant eye drop for photoreceptor protection in retinitis pigmentosa.Drug delivery and translational research · 2026Article
- Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort.Medical sciences (Basel, Switzerland) · 2026Article
- Phase 1/2a Clinical Trial Protocol for Lentiviral Vector-Based Retinal Gene Therapy to Slow the Progression of Retinitis Pigmentosa.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound HeterozygousClinical case reports · 2026Article
- Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.International journal of molecular sciences · 2025Review
- Mechanisms and Functions of Chromophore Regeneration in the Classical Visual Cycle: Implications for Retinal Disease Pathogenesis and Therapy.Biomolecules · 2025Review
- Clinical and pharmacovigilance safety evaluation of LUXTURNACutaneous and ocular toxicology · 2025Review
- Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies.Journal of clinical medicine · 2025Article
- One down but many more to go: the state of gene therapy for inherited retinal disease.Regenerative medicine · 2025Review
- ConPath 2.0: an optimized consensus strategy for assessing the potential pathogenicity of hRPE65 missense variants.Journal of molecular modeling · 2025Article
- Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.Investigative ophthalmology & visual science · 2025Article
- A review of the 661W cell line as a tool to facilitate treatment development for retinal diseases.Cell & bioscience · 2025Review
- 12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea.Eye (London, England) · 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
- Clinical trials to gene therapy development and production in Brazil: a review.Lancet regional health. Americas · 2025Review
- Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies.Cells · 2025Review
- Genetics and phenotypes ofMolecular vision · 2025Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionInherited retinal dystrophies (IRDs) represent a genetically diverse group of progressive, visually debilitating diseases. Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically diagnosed as retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). This study aimed to understand the epidemiological landscape of RPE65 gene-mediated IRD through a systematic review of the literature, as the current evidence base for its epidemiology is very limited.
methodsMedline, Embase, and other databases were searched for articles on the epidemiology of RPE65 gene-mediated IRDs from inception until June 2021. Studies were included if they were original research articles reporting the epidemiology of RP and LCA and/or proportion of RPE65 gene mutations in these clinically diagnosed or molecularly confirmed IRDs patients.
resultsA total of 100 studies with relevant data were included in this systematic review. The range for prevalence of LCA and RP in the literature was 1.20-2.37 and 11.09-26.43 per 100,000, respectively. The proportion of RPE65 mutations in clinically diagnosed patients with LCA was found to be between ~ 2-16% within the US and major European countries (France, Germany, Italy, Spain, and the UK). This range was also comparable to our findings in the Asian region for RPE65-LCA (1.26-16.67%). Similarly, for these European countries, RPE65-RP was estimated between 0.23 and 1.94%, and RPE65-IRD range was 1.2-14%. Further, in the Americas region, mutations in RPE65 were reported to cause 1-3% of RP and 0.8-3.7% of IRD cases. Lastly, the RPE65-IRD range was 4.81-8% in the Middle East region.
conclusionsThere are significant variations in reporting of RPE65 proportions within countries as well as regions. Generating robust epidemiological evidence on RPE65 gene-mediated IRDs would be fundamental to support rare disease awareness, timely therapeutic intervention, and public health decision-making.
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