Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
In this multicenter cohort study among individuals with FECD, CTG18.1 expansions were present in most European and South Asian patients, while CTG18.1 repeat length and zygosity status were associated with modifications in disease severity and penetrance. Known disease-associated genes accounted for only a minority of Exp- cases, with unknown risk factors associated with disease in the rest of this subgroup. These data may have implications for future FECD gene-targeted therapy development.
Authors
- Pavlína Skalická (ORCID: https://orcid.org/0000-0002-7403-3433)
- Mark Wilkins (ORCID: https://orcid.org/0000-0002-8742-9162)
- Stephen J. Tuft (ORCID: https://orcid.org/0000-0001-8192-5192)
- Siyin Liu (ORCID: https://orcid.org/0000-0003-2684-4212)
- Petra Lišková (ORCID: https://orcid.org/0000-0001-7834-8486)
- Bruce Allan (ORCID: https://orcid.org/0000-0002-8503-4482)
- Ľubica Ďuďáková (ORCID: https://orcid.org/0000-0003-4718-8955)
- Darren G. Monckton (ORCID: https://orcid.org/0000-0002-8298-8264)
- Ismail Moghul (ORCID: https://orcid.org/0000-0003-3653-2327)
- Alice E. Davidson (ORCID: https://orcid.org/0000-0002-1816-6151)
- Nihar Bhattacharyya (ORCID: https://orcid.org/0000-0002-6496-2431)
- Anne‐Marie S. Kladny (ORCID: https://orcid.org/0000-0001-8105-8973)
- Marc Ciosi (ORCID: https://orcid.org/0000-0002-7663-4080)
- Amanda N. Sadan (ORCID: https://orcid.org/0000-0002-3652-8750)
- Alison J. Hardcastle (ORCID: https://orcid.org/0000-0002-0038-6770)
- Catey Bunce (ORCID: https://orcid.org/0000-0002-0935-3713)
- Christina Zarouchlioti (ORCID: https://orcid.org/0000-0002-5096-177X)
- Kirithika Muthusamy (ORCID: https://orcid.org/0000-0001-6009-0923)
- Nathaniel J. Hafford‐Tear (ORCID: https://orcid.org/0000-0001-8564-5198)
- Anita Szabó (ORCID: https://orcid.org/0000-0002-8912-897X)
- Nikolas Pontikos (ORCID: https://orcid.org/0000-0003-1782-4711)
- Marcos Abreu Costa
Institutions
- Royal Marsden NHS Foundation Trust (GB)
- Institute of Cancer Research (GB)
- University of Freiburg (DE)
- Charles University (CZ)
- Moorfields Eye Hospital (GB)
- General University Hospital in Prague (CZ)
- University College London (GB)
- University of Glasgow (GB)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2025-03-13
- DOI
- https://doi.org/10.1001/jamaophthalmol.2025.0109
- Citations
- 9
- Primary Topic
- Corneal surgery and disorders
- Type
- article
- Field-Weighted Citation Impact
- 12.24
Funders
- Medical Research Council