CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features
CTNNA1-associated retinal dystrophy due to p.(Leu318Ser) has a unique peripheral retinal phenotype despite variable macular involvement. Reduced EOG light-rise and peripheral reticular pigmentation should raise suspicion of CTNNA1 in butterfly-shaped pigment dystrophy.
Authors
- Jonathan Alexis (ORCID: https://orcid.org/0000-0002-3590-0477)
- Enid Chelva (ORCID: https://orcid.org/0000-0001-6603-2548)
- Matthew K Kenworthy (ORCID: https://orcid.org/0000-0003-1772-6919)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Prathiba Ramakrishnan (ORCID: https://orcid.org/0009-0008-2101-5689)
Institutions
- Lions Eye Institute (AU)
- The University of Melbourne (AU)
- The University of Western Australia (AU)
- Sir Charles Gairdner Hospital (AU)
Publication Details
- Journal
- Documenta Ophthalmologica
- Published
- 2025-06-02
- DOI
- https://doi.org/10.1007/s10633-025-10027-0
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Channel 7 Telethon Trust
- Retina Australia
- McCusker Charitable Foundation
- University of Western Australia
- National Health and Medical Research Council