ArticleInvestigative ophthalmology & visual science2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Article in Investigative ophthalmology & visual science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
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Who cites it
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 126 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an IrishGenes · 2026Article
- The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGR.Eye (London, England) · 2026Review
- RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.Human genetics · 2026Article
- Central Retinal Sensitivity Decline in RPGR-Related Retinal Phenotypes.American journal of ophthalmology · 2026Article
- Insights IntoHuman mutation · 2026Review
- Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations.BMC ophthalmology · 2025Article
- Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linkedAmerican journal of ophthalmology case reports · 2025Article
- The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Article
- The incidence of visual impairment due to retinitis pigmentosa has declined in Finland over the last 40 years.Acta ophthalmologica · 2025Article
- Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.Pharmaceuticals (Basel, Switzerland) · 2025Review
- RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.American journal of ophthalmology · 2024Article
- Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.Molecular genetics & genomic medicine · 2024Article
- Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.Journal of medical genetics · 2024Article
- Clinical sequencing of the retinitis pigmentosa geneMolecular vision · 2024Article
- Review
- Article
- RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.Ophthalmology · 2023Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
25 authors at 10 institutions in 3 countries.
Funding
Abstract
purposeTo determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2.
methodsSimplex males were defined as patients with no known affected family members. Patients were excluded if they had a family history of parental consanguinity. Blood samples from a total of 214 simplex males with a diagnosis of retinal degeneration were collected for genetic analysis. The patients were screened for mutations in RPGR and RP2 by direct sequencing of PCR-amplified genomic DNA.
resultsWe identified pathogenic mutations in 32 of the 214 patients screened (15%). Of the 29 patients with a diagnosis of COD/CORD, four mutations were identified in the ORF15 mutational hotspot of the RPGR gene. Of the 185 RP patients, three patients had mutations in RP2 and 25 had RPGR mutations (including 12 in the ORF15 region).
conclusionsThis study represents mutation screening of RPGR and RP2 in the largest cohort, to date, of simplex males affected with RP or COD/CORD. Our results demonstrate a substantial contribution of RPGR mutations to retinal degenerations, and in particular, to simplex RP. Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration.
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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.