Journal article
Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice
SA Gocuk, Y Jiao, AC Britten-Jones, NM Kerr, L Lim, S Skalicky, R Stawell, LN Ayton, HG Mack
Clinical Ophthalmology | DOVE MEDICAL PRESS LTD | Published : 2022
DOI: 10.2147/OPTH.S353787
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 vitreor-etinopathies (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 av..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
The authorship team would like to thank the many IRD patients who have been seen at Eye Surgery Associates and the ophthalmologists caring for them who agreed to patient file review: Jacqueline Beltz, Ben Connell, Anthony JH Hall, Andrew Symons, Wilson Heriot and Grant Snibson. LA is supported by a National Health and Medical Research Council (NHMRC) MRFF Fellowship (MRF# 1151055) and EL2 Investigator Grant (GNT#1195713) . CERA receives Operational Infrastructure Support from the Victorian Government. Sena A. Gocuk and Yuanzhang Jiao are co-first authors, and Lauren N. Ayton and Heather G. Mack are co-senior authors, on this paper.