Genotype–Phenotype Correlations and Long-Term Surgical Outcomes in TGFBI-Linked Bowman's Layer Corneal Dystrophies
Our findings further support that the p.(Arg124Leu) variant is associated with an earlier onset and a more aggressive clinical course than the p.(Arg555Gln) variant. Genetic testing is key to precise differential diagnosis of these CDs and provides clinical prognostication to guide the therapeutic options.
Authors
- Jean-Louis Bourges
- Sophie Valleix (ORCID: https://orcid.org/0000-0002-4812-7102)
- Zachary Mahoun
Institutions
- Inserm (FR)
- Centre de Recherche des Cordeliers (FR)
- Hôpital Cochin (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
Publication Details
- Journal
- Cornea
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1097/ico.0000000000004064
- Primary Topic
- Corneal surgery and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00