Inherited Retinal Disease
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Uptake in genetic testing for IRDs will change patient management

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Although the prevalence of genetic testing for inherited retinal diseases (IRDs) is increasing, there has been a relatively slow uptake in private practice. As the importance of these tests continues to increase, researchers believe that changes in the private ophthalmology system will need to occur to adopt them.

In this single-center retrospective study from Australia, researchers analyzed the records of 464 patients with diagnosed or suspected IRD to get a better understanding of the prevalence of genetic testing in a practice setting.

Overall, patients received care for panretinal pigmentary retinopathies (61%), macular dystrophies (29.3%), stationary diseases (5%), hereditary vitreoretinopathies (3%), and other IRDs (1.7%). Overall, 44.2% of IRDs were suspected to be autosomal recessive.

Only 9.5% of patients in this cohort underwent genetic testing and had available results, which had a diagnostic yield of 65.9%.

Most of the patients who had genetic testing results were <45 years of age (13.1%) and had been receiving care for more than 12 months (16%).

Reasons for not undergoing genetic testing include awaiting a geneticist consultation (17.9%), awaiting test results (4.5%), or patient refusal (8.4%).

Genetic testing status was not documented on nearly 70% of clinical records.

The authors suggested that more research is needed to identify and address barriers to genetic testing for IRD.


Gocuk SA, Jiao Y, Britten-Jones AC, et al. Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice. Clin Ophthalmol. 2022;16:1127-1138. doi: 10.2147/OPTH.S353787. PMID: 35444405; PMCID: PMC9013913.