Lecithin-Cholesterol Acyltransferase Deficiency as a Rare Cause of Bilateral Corneal Opacities: A Case Report of a Novel Frameshift Mutation
This case highlights the importance of considering metabolic disorders in the differential diagnosis of bilateral corneal opacities and expands the genetic spectrum of LCAT deficiency by reporting a novel frameshift mutation.
Authors
- Augusto Candeias
- Rita Condesso
- João Mendes (ORCID: https://orcid.org/0000-0001-5752-0152)
- F Mendes
- João Garrido
- Diogo Valente Fortunato
Institutions
- Baylor College of Medicine (US)
- Hospital do Espírito Santo (PT)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-12-09
- DOI
- https://doi.org/10.1159/000549959
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00