ArticleOphthalmology. Retina2022
The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.
Article in Ophthalmology. Retina, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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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.
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Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- A novel phenotype-guided genome analysis pipeline for variant discovery.NPJ genomic medicine · 2026Article
- Review
- RetiGene, a comprehensive gene atlas for inherited retinal diseases.American journal of human genetics · 2025Review
- Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.Investigative ophthalmology & visual science · 2025Article
- Article
- Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes.Investigative ophthalmology & visual science · 2025Article
- Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics.JCI insight · 2024Article
- Comparison of The Results of Sponsored Genetic Testing Panels for Inherited Retinal Diseases.Journal of clinical medicine · 2024Article
- Immunology of Retinitis Pigmentosa and Gene Therapy-Associated Uveitis.Cold Spring Harbor perspectives in medicine · 2024Review
- Article
- Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.International journal of molecular sciences · 2023Article
- Lipid nanoparticles with PEG-variant surface modifications mediate genome editing in the mouse retina.Nature communications · 2023Article
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?American journal of ophthalmology · 2023Observational
- Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients.Scientific reports · 2023Article
- Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.Korean journal of ophthalmology : KJO · 2023Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
purposeTo evaluate genetic testing platforms used to aid in the diagnosis of inherited retinal degenerations (IRDs).
designEvaluation of diagnostic tests and technologies. SUBJECTS: Targeted genetic panel testing for IRDs.
methodsData collected regarding targeted genetic panel testing for IRDs offered by different laboratories were investigated for the inclusion of coding and noncoding variants in disease genes. Both large IRD panels and smaller, more focused, disease-specific panels were included in the analysis.
main outcome measuresNumber of disease genes tested as well as the commonality and uniqueness across testing platforms in both coding and noncoding variants of disease.
resultsAcross the 3 IRD panel tests investigated, 409 unique genes are represented, of which 269 genes are tested by all 3 panels. The top 20 genes known to cause over 70% of all IRDs are represented in the 269 common genes tested by all 3 panels. In addition, 138 noncoding variants in 50 unique genes are assayed across the 3 platforms. Focused, disease-specific panels exhibit significant variability across the 5 testing platforms that were studied.
conclusionsOrdering genetic testing for IRDs is not straightforward, as evidenced by the multitude of panels available to providers. It is important that there is coverage of both coding and noncoding regions in IRD genes to offer diagnoses in these patients. This paper details the diversity of testing platforms currently available to clinicians and provides a thorough explanation of the genes tested in the different IRD panels. In a time of increased importance of the clinical genetic testing of patients with IRDs, knowledge of the proper test to order is paramount.
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Registered trials
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.