Inherited Retinal Disease or Age‐Related Macular Degeneration: Predictive Value of Genetic Testing in Macular Disease With Atypical Atrophy
IRD genetic testing is valuable if a positive identification is achieved, but negative results neither rule out IRD nor confirm AMD. Limitations in our ability to robustly differentiate IRD-related atrophy from GA, especially in advanced lesions, need further research to improve diagnostic accuracy.
Authors
- Thomas L. Edwards (ORCID: https://orcid.org/0000-0003-0238-7416)
- Maria Kolic (ORCID: https://orcid.org/0000-0002-8877-3264)
- Alexis Ceecee Britten‐Jones (ORCID: https://orcid.org/0000-0002-1101-2870)
- Heather G. Mack (ORCID: https://orcid.org/0000-0001-9756-1098)
- Doron G. Hickey (ORCID: https://orcid.org/0000-0002-3711-5595)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Lauren N. Ayton (ORCID: https://orcid.org/0000-0001-9907-084X)
- Robyn H. Guymer (ORCID: https://orcid.org/0000-0002-9441-4356)
- Carla J. Abbott (ORCID: https://orcid.org/0000-0002-1432-8977)
- Janise Hermawan
Institutions
- Lions Eye Institute (AU)
- The University of Melbourne (AU)
- The University of Western Australia (AU)
- Australian College of Optometry (AU)
- Centre for Eye Research Australia (AU)
- Melbourne Health (AU)
Publication Details
- Journal
- Clinical and Experimental Ophthalmology
- Published
- 2025-10-13
- DOI
- https://doi.org/10.1111/ceo.70008
- Citations
- 1
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.71