Unveiling the complexity of Schimmelpenning–Feuerstein–Mims syndrome: A comprehensive case study
The SFM is attributed to a pathogenic variant in <i>KRAS</i> gene. The molecular analysis in individuals suspected of SFMS involves identifying the somatic mutation in affected tissues and comparing it with non-affected tissues, such as mucosa or blood. Early detection and appropriate treatment of ophthalmological abnormalities associated with SFM are crucial to improving the quality of life and visual prognosis of affected individuals.
Authors
- Guillermo Raúl Vera-Duarte (ORCID: https://orcid.org/0000-0002-3417-256X)
- Oscar F. Chacón‐Camacho (ORCID: https://orcid.org/0000-0001-6274-6041)
- Enrique O Graue-Hernández (ORCID: https://orcid.org/0000-0003-3267-3915)
- Juan Carlos Zenteno (ORCID: https://orcid.org/0000-0002-9716-8146)
- Ruth Eskenazi-Betech
- Isabel De la Fuente-Batta
- David Carreño-Bolaños
Institutions
- Institute of Ophthalmology (MX)
- Universidad Nacional Autónoma de México (MX)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102321
- Citations
- 1
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 1.82