Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations
This case demonstrates how MPV can significantly influence ophthalmic surgical decision-making. Genetic findings initially considered secondary became critical as cardiovascular risk evolved. Multidisciplinary coordination between ophthalmology and genetics is essential to integrate evolving genomic insights into perioperative care and ensure optimal patient safety.
Authors
- Güney Bademci (ORCID: https://orcid.org/0000-0002-4052-8833)
- Alejandro M Perez (ORCID: https://orcid.org/0000-0002-7791-7357)
- Sujin Kang (ORCID: https://orcid.org/0009-0005-9466-1911)
- Ta Chen Chang (ORCID: https://orcid.org/0000-0003-4827-5014)
- Carson Smith
Institutions
- University of Miami (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1080/13816810.2025.2582609
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00