Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Open accessAbstract
Significance: By computing genotype data from six major world populations, we aimed at calculating how many individuals are affected with an autosomal recessive (AR) form of inherited retinal disease (IRD) or carry a mutation that can be transmitted to future generations. By analyzing variants in 187 IRD-associated genes, we detected 10,044 mutations and estimated that 2.7 billion individuals worldwide are carriers of an IRD disease-causing mutation, whereas 5.5 million are expected to be affected. This study will assist clinicians in their decision about the need to perform relevant genetic tests when diagnosing patients with IRDs. Similar studies can take advantage of our approach to calculate the expected number of affected or carrier individuals for any genetic disease with known molecular etiology.
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Inherited retinal diseases affect 1 in 1,380 individuals.
“Another major cause of blindness in the working-age population are inherited retinal diseases (IRDs), which affect 1 in 1,380 individuals and represent a wide variety of conditions resulting from a broad range of genetic mutations [6].”
From The economic impact of retinal diseases for which gene therapy is emerging: a systematic literature review (2025) · cites this paper as [6]
The paper’s opening summary gives approximately 1 in 1,380 as the estimated genetic prevalence of autosomal recessive IRDs, not all inherited retinal diseases. Its “GP of AR-IRDs” section also notes that the estimate includes people who are currently healthy but expected to develop an IRD later, so the citing sentence overstates it as a current affected-population rate. Page numbers were not available in our copy. (LLM, conf=0.90)
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“Introduction Inherited retinal degenerations (IRDs) are a diverse group of progressive, blinding diseases that are the most common cause of vision loss in developed countries, affecting an estimated 5.5 million patients (Hanany et al., 2020).”
BackgroundInfluentialHigh-efficiency base editing in the retina in primates and human tissues
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“Another major cause of blindness in the working-age population are inherited retinal diseases (IRDs), which affect 1 in 1,380 individuals and represent a wide variety of conditions resulting from a broad range of genetic mutations [6].”
- Authors
- Hanany, M., Rivolta, C., & Sharon, D.
- Affiliations
- Hebrew University of Jerusalem (IL)
- University of Leicester (GB)
- Corresponding author
- Sharon, Dror
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2020-01-21
- Volume
- 117
- Issue
- 5
- Pages
- 2710-2716
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC7007541
- OpenAlex
- W3002340286
- Cited by
- 408
- References
- 35
- Citations by year
- 2026: 70 · 2025: 91 · 2024: 75 · 2023: 63 · 2022: 44 · 2021: 51 · 2020: 14
- FWCI
- 15.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- edoc (University of Basel) (acceptedVersion)
- edoc (University of Basel)
- Funders
- Israeli Ministry of Health (3-12583)
- Foundation Fighting Blindness (BR-GR-0518-0734)
- Swiss National Science Foundation (176097)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- carrier frequency, genetic prevalence, pathogenic variants, mutation carriers, mutational burden, genetic variants
- MeSH terms
- Africa, Asia, Europe, Gene Frequency, Genes, Recessive, Heterozygote, Humans, Mutation, Pedigree, Retinal Diseases, Prevalence
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