ArticleTranslational vision science & technology2022
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Article in Translational vision science & technology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 20 citations in OpenAlex.
- Tapetal-like reflex in RPGR-associated retinal dystrophies: two cases with distinct phenotypes.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Investigative ophthalmology & visual science · 2026Observational
- First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an IrishGenes · 2026Article
- Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.Ophthalmology science · 2026Article
- Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.The British journal of ophthalmology · 2025Article
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- Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.Biomedicines · 2024Article
- Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated witheLife · 2024Article
- Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.Molecular genetics & genomic medicine · 2024Article
- Clinical sequencing of the retinitis pigmentosa geneMolecular vision · 2024Article
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- Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated withmedRxiv : the preprint server for health sciences · 2023Article
- RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.Investigative ophthalmology & visual science · 2023Article
- [Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know].Die Ophthalmologie · 2023Article
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- Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.International journal of molecular sciences · 2023Article
- Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
Corrections and comments
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Authors and funding
24 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Comprehensive genetic testing for inherited retinal dystrophy (IRD) is challenged by difficult-to-sequence genomic regions, which are often mutational hotspots, such as RPGR ORF15. The purpose of this study was to evaluate the diagnostic contribution of RPGR variants in an unselected IRD patient cohort referred for testing in a clinical diagnostic laboratory. Methods: A total of 5201 consecutive patients were analyzed with a clinically validated next-generation sequencing (NGS)-based assay, including the difficult-to-sequence RPGR ORF15 region. Copy number variant (CNV) detection from NGS data was included. Variant interpretation was performed per the American College of Medical Genetics and Genomics guidelines. Results: A confirmed molecular diagnosis in RPGR was found in 4.5% of patients, 24.0% of whom were females. Variants in ORF15 accounted for 74% of the diagnoses; 29% of the diagnostic variants were in the most difficult-to-sequence central region of ORF15 (c.2470-3230). Truncating variants made up the majority (91%) of the diagnostic variants. CNVs explained 2% of the diagnostic cases, of which 80% were one- or two-exon deletions outside of ORF15. Conclusions: Our findings indicate that high-throughput, clinically validated NGS-based testing covering the difficult-to-sequence region of ORF15, in combination with high-resolution CNV detection, can help to maximize the diagnostic yield for patients with IRD. Translational Relevance: These results demonstrate an accurate and scalable method for the detection of RPGR-related variants, including the difficult-to-sequence ORF15 hotspot, which is relevant given current and emerging therapeutic opportunities.
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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.