ArticleAmerican journal of ophthalmology2019
Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.
Article in American journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Longitudinal Behavior of the Hyper-Reflective Ganglion Cell Layer Band and Its Association With Ellipsoid Zone Constriction Rate in RP.Investigative ophthalmology & visual science · 2026Article
- Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study.Acta ophthalmologica · 2026Article
- Genetic Therapies for Retinitis Pigmentosa: Current Breakthroughs and Future Directions.Journal of clinical medicine · 2025Review
- Long-term natural history of ellipsoid zone width inThe British journal of ophthalmology · 2025Article
- OCT Biomarkers in a Cohort of Patients WithJournal of ophthalmology · 2025Article
- A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.International journal of molecular sciences · 2024Article
- PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.Vision research · 2023Review
- Recoding of Nonsense Mutation as a Pharmacological Strategy.Biomedicines · 2023Review
- Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Determinants of Disease Penetrance inGenes · 2021Article
- Observational
- Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.Investigative ophthalmology & visual science · 2021Article
- Heterozygous deletions of noncoding parts of theMolecular vision · 2021Article
- Predicting lncRNA-Protein Interaction With Weighted Graph-Regularized Matrix Factorization.Frontiers in genetics · 2021Article
- Assessing Residual Cone Function in Retinitis Pigmentosa Patients.Translational vision science & technology · 2020Article
- Targeting Nonsense: Optimization of 1,2,4-Oxadiazole TRIDs to Rescue CFTR Expression and Functionality in Cystic Fibrosis Cell Model Systems.International journal of molecular sciences · 2020Article
- Comparative Analysis of Functional and Structural Decline in Retinitis Pigmentosas.International journal of molecular sciences · 2020Article
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Strategies against Nonsense: Oxadiazoles as Translational Readthrough-Inducing Drugs (TRIDs).International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
purposeVariants in PRPF31, a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by haploinsufficiency. In anticipation of upcoming replacement gene therapy trials, we present the phenotype and clinical progression of a large cohort of patients with PRPF31-mediated RP.
designCross-sectional with retrospective review.
methodsA total of 26 patients with RP and 5 asymptomatic individuals, all with deleterious variants in PRPF31 (from 13 families), were selected from our database of patients followed longitudinally. Ages ranged from 9 to 77 years (mean 47 years), with an average follow-up time of 16 years. All patients underwent ophthalmic examination including psychophysical tests, electrophysiology, and imaging. All available records were reviewed retrospectively. Additionally, all patients were contacted, and all available patients (n = 7) were examined in an additional prospective follow-up visit.
resultsAge of onset ranged from 6 to 71 years, without apparent relationship to specific variant. Two adults (aged 42 and 77 years) and 3 teenaged children were found to harbor a mutation with no evidence of RP. In those with RP, visual field area (spot size III) declined exponentially at a rate of 8.1% per year of disease duration (P < .001, 95% confidence interval [CI] 5.6-10.6), cone electroretinogram amplitude declined exponentially at a rate of 7.3% per year of disease duration (P < .001, 95% CI 5.4-9.1), and ellipsoid zone area declined exponentially at a rate of 5.4% per year of disease duration (P < .001, 95% CI 3.7-7.1).
conclusionsPRPF31-mediated retinitis pigmentosa is characterized by a variable age of onset. Once disease develops, it follows a predictable exponential time course.
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