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.

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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
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article

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations

Güney Bademci, Alejandro M Perez, Sujin Kang, Ta Chen Chang et al.
Ophthalmic Genetics
Connective tissue disorders research
article

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations

Güney Bademci, Alejandro M Perez, Sujin Kang, Ta Chen Chang, Carson Smith
article en

Abstract

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.

Ophthalmic GeneticsVol. 47(2)
University of Miami (US)
Openalex Percentile: Top 64%
Connective tissue disorders research
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