ReviewCold Spring Harbor perspectives in medicine2024
Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.
Review in Cold Spring Harbor perspectives in medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Efficacy and safety of intravitreal conbercept and triamcinolone acetonide for wet age-related macular degeneration in China: a meta-analysis.International ophthalmology · 2024Pooled it
- Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients.Ophthalmology science · 2026Article
- Genotype-phenotype correlations in retinitis pigmentosa: structural and vascular insights using OCT and OCTA.International journal of retina and vitreous · 2026Article
- The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.Investigative ophthalmology & visual science · 2026Article
- Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026Review
- Inherited retinal disorders in Scotland: A 5 year assessment.Eye (London, England) · 2026Article
- Low population penetrance of variants associated with inherited retinal degenerations.American journal of human genetics · 2026Article
- Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort.Medical sciences (Basel, Switzerland) · 2026Article
- Classification of Inherited Retinal Diseases Using Artificial Intelligence Models for Fundus Autofluorescence and Ultrawide Retinal Images.Journal of ophthalmology · 2026Article
- Mitochondrial outer membrane protein FUNDC2 contributes to ferroptosis as a potential upstream regulator in retinitis pigmentosa.International journal of ophthalmology · 2026Article
- Gene Therapy for Inherited Retinal Disease: Current Strategies, Personalized Medicine, and Future Implications-A Comprehensive Review.Journal of personalized medicine · 2025Review
- RetiGene, a comprehensive gene atlas for inherited retinal diseases.American journal of human genetics · 2025Review
- A Comprehensive Review of Clinically Applied Adeno-Associated Virus-Based Gene Therapies for Ocular Disease.Human gene therapy · 2025Review
- RHO1-2 meganuclease gene editing targets human P23H rhodopsin-induced retinitis pigmentosa to rejuvenate rods and maintain cones.bioRxiv : the preprint server for biology · 2025Article
- Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.BMC medical genomics · 2025Observational
- Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.International journal of molecular sciences · 2025Article
- Article
- A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.Human molecular genetics · 2025Article
- PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.Investigative ophthalmology & visual science · 2025Article
- Nationwide Prevalence and Geographic Variation of Idiopathic Intracranial Hypertension among Women in the United States.Ophthalmology · 2025Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
One of the considerations in planning the development of novel therapeutic modalities is disease prevalence that is usually defined by studying large national/regional populations. Such studies are rare and might suffer from inaccuracies and challenging clinical characterization in heterogeneous diseases, such as inherited retinal diseases (IRDs). Here we collected reported disease prevalence information on various IRDs in different populations. The most common IRD, retinitis pigmentosa, has an average disease prevalence of ∼1:4500 individuals, Stargardt disease ∼1:17,000, Usher syndrome ∼1:25,000, Leber congenital amaurosis ∼1:42,000, and all IRDs ∼1:3450. We compared these values to genetic prevalence (GP) calculated based on allele frequency of autosomal-recessive IRD mutations. Although most values did correlate, some differences were observed that can be explained by discordant, presumably null mutations that are likely to be either nonpathogenic or hypomorphic. Our analysis highlights the importance of performing additional disease prevalence studies and to couple them with population-dependent allele frequency data.
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