ArticleClinical ophthalmology (Auckland, N.Z.)2022
Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice.
Article in Clinical ophthalmology (Auckland, N.Z.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients.Ophthalmology science · 2026Article
- Socioeconomic and clinical factors associated with genetic testing completion in Stargardt disease.Genetics in medicine open · 2026Article
- AAV2.7m8 transduction of stage 2 human retinal organoids induces highly variable responses in innate and inflammatory gene expression and cytokine secretion.Experimental eye research · 2025Article
- Article
- A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.NPJ genomic medicine · 2025Article
- Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.NPJ genomic medicine · 2025Article
- Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey.Advances in therapy · 2024Article
- Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.Scientific reports · 2024Article
- Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.Clinical genetics · 2024Article
- Prevalence of inherited retinal diseases in a large Egyptian cohort.BMC ophthalmology · 2023Article
- Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit.Annals of medicine · 2023Article
- Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics.Clinical & experimental ophthalmology · 2022Article
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Authors and funding
9 authors.
Funding
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Abstract
Background: To assess the prevalence of genetic testing for inherited retinal diseases (IRDs) in a tertiary practice setting. Methods: Single-centre retrospective analysis of patients with diagnosed or suspected IRD. Results: Four hundred and sixty-four patient records were analysed. Patients had received care for different IRDs grouped as follows: panretinal pigmentary retinopathies (283, 61%), macular dystrophies (136, 29.3%), stationary diseases (23, 5%), hereditary vitreoretinopathies (14, 3%), and other IRDs (8, 1.7%). The suspected pattern of inheritance of patients' IRD was predominantly autosomal recessive (205, 44.2%). Genetic testing was performed with the corresponding results available for 44 patients (9.5%). Diagnostic yield was 65.9% for the results received. Genetic test results were available mostly for younger patients (13.1% for <45 years vs 6.2% ≥45 years of age, p = 0.01) and those who received greater than 12 months of care (16% for ≥12 months vs 4% for <12 months, p < 0.01). For patients without genetic testing results, reasons include awaiting a geneticist consultation (17.9%), awaiting test results (4.5%), or patient refusal (8.4%). Most clinical records (69.2%) did not document genetic testing status. Conclusion: Genetic testing is increasingly being utilised in the work-up for patients with IRD worldwide. This large Australian private practice IRD cohort shows a low uptake of testing (around 10%), reflecting historical management patterns and accessibility of genetic counselling and testing. The results show that younger patients and those with a longer duration of care were more likely to have received genetic testing. As the importance of IRD genetic testing continues to increase, we expect to see a change in patient management within the Australian private ophthalmology system and testing rates to increase. Further research is required to identify and address clinician and patient barriers to improving genetic testing rates for IRD.
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