Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit

Alexis Ceecee Britten-Jones; Demi Markakis; Robyn H Guymer; Ming-Lee Lin; Simon Skalicky; Lauren N Ayton; Heather G Mack

doi:10.1080/07853890.2023.2250538

Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit

Ann Med. 2023;55(2):2250538. doi: 10.1080/07853890.2023.2250538.

Authors

Alexis Ceecee Britten-Jones^{1

2

3}, Demi Markakis^{4

5}, Robyn H Guymer^{1

2}, Ming-Lee Lin⁶, Simon Skalicky^{1

2

6}, Lauren N Ayton^{1

2

3}, Heather G Mack^{1

2

6}

Affiliations

¹ Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Australia.
² Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
³ Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Australia.
⁴ Cabrini Hospital, Malvern, Australia.
⁵ Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Australia.
⁶ Eye Surgery Associates, East Melbourne, Australia.

Abstract

Purpose: Accurate diagnosis of macular atrophy is paramount to enable appropriate treatment when novel treatments for geographic atrophy and macular dystrophies become available. Genetic testing is useful in distinguishing between the two conditions but is not feasible for the majority of patients in real-world clinical practice. Therefore, we aimed to investigate the potential misdiagnosis of inherited macular dystrophy as age-related macular degeneration (AMD) in real-world ophthalmic practice to assist in the development of guidelines to improve diagnostic accuracy while minimizing genetic testing for targeted patients.

Methods: Retrospective review of the medical records of patients diagnosed with AMD, which included imaging, between 1995 and 2023 from a large multidisciplinary private ophthalmic practice in Australia. We will use a stepwise method to screen for probable cases of macular dystrophy, followed by a consensus review by an expert panel. The outcomes are (1) to determine the potential misdiagnosis rate of macular dystrophy as atrophic AMD by retinal specialists and general ophthalmologists; (2) to identify clinical imaging modalities that are most useful for differentiating macular dystrophy from atrophic AMD; and (3) to establish preliminary guidance for clinicians to improve the diagnosis of macular atrophy from AMD in practice, and thereby target cost-efficient genetic testing.

Discussion: Improving the diagnostic accuracy of both AMD and macular dystrophy, while ensuring cost-efficient genetic testing, will improve the targeted treatment of macular diseases when emerging treatments become available.

Keywords: Age-related macular degeneration; fundus autofluorescence; inherited macular disease; inherited retinal disease; macular dystrophy; retrospective clinical review.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Atrophy
Australia
Clinical Audit
Humans
Macular Degeneration* / diagnosis
Macular Degeneration* / genetics
Retrospective Studies

Grants and funding

D.M. was awarded a Cabrini Medical Staff Scholarship for this study. Researchers were supported by an Australian National Health and Medical Research Council Fellowship (grant No. 1195713 to L.N.A.), a University of Melbourne Driving Research Momentum Fellowship (L.N.A.) and a University of Melbourne Postdoctoral Fellowship (A.C.B.-J.). Centre for Eye Research Australia receives support from the Victorian Government through its Operational Infrastructure Support Program. ESA will provide in-kind funding for data extraction.