ArticleEye (London, England)2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Article in Eye (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes.Investigative ophthalmology & visual science · 2026Article
- Review
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Scientific reports · 2026Article
- From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks.Biomedicines · 2026Review
- Article
- Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.Investigative ophthalmology & visual science · 2026Article
- "Hypomorphic splice-site variants in the CHM gene: implications for patient selection and endpoint design in choroideremia gene therapy trials".Annals of medicine and surgery (2012) · 2026Article
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Authors and funding
14 authors.
Funding
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Abstract
backgroundInherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis, whole-genome sequencing (WGS), customised gene panels and functional assays to improve diagnostic yield in unresolved cases. SUBJECTS/
methodsWe retrospectively reviewed a cohort of 597 individuals with IRDs, including 525 probands and 72 affected relatives. Among the 221 genetically unresolved cases, a subset of 101 was selected for stepwise re-evaluation. This included WES reanalysis with updated virtual panels, WGS in selected cases and targeted sequencing of complex regions. Variant interpretation was refined using updated classification criteria, segregation analysis and functional assays such as mRNA and minigene/midigene studies.
resultsAn initial diagnostic yield of 59.6% (313/525) was achieved through first-tier genetic testing. Re-evaluation of the 101 prioritised cases resulted in 42 new diagnoses in probands and resolution of 7 more familial cases, yielding 49 additional diagnoses among previously unresolved patients (48.5%). This increased the overall diagnostic rate for probands to 67.6% (355/525). Functional assays confirmed pathogenicity of variants in ABCA4, ATF6, REEP6, and TULP1, while WGS enabled the detection of structural and deep intronic variants, further enhancing diagnostic accuracy.
conclusionsA patient-centred, stepwise genomic approach significantly improved the molecular diagnosis of IRDs. This strategy supports the clinical utility of periodic WES reanalysis and targeted use of customised panels, WGS and functional assays. The proposed workflow is scalable and applicable to routine clinical practice, contributing to precision medicine in IRDs.
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