Ophthalmic genetics · 2025
Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations.
СтатьяКлинический случайПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Kang Sujin, Perez Alejandro M, Smith Carson, Chang Ta Chen, Bademci Guney
Аннотация
INTRODUCTION: Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant disorder caused by pathogenic BCOR variants and characterized by congenital cataracts, microcornea, and secondary glaucoma. Multilocus pathogenic variation (MPV), in which independent variants contribute to disease burden, can further complicate syndromic presentations and alter surgical planning. This case highlights the importance of longitudinal genetic evaluation in complex ophthalmic disease.
METHODS: Comprehensive ophthalmic evaluation, multimodal imaging, and systemic assessment were performed. Trio exome sequencing was used as part of the genetic diagnostic work-up. Standard preoperative cardiovascular imaging was completed before planned glaucoma surgery.
RESULTS: A 15-year-old female with OFCD exhibited congenital cataracts, bilateral microcornea, and persistent secondary glaucoma requiring multiple interventions. Trio exome sequencing confirmed a de novo pathogenic BCOR mutation and identified a paternally inherited pathogenic MYLK variant associated with thoracic aortic aneurysm and dissection. Although initially cleared for glaucoma surgery, routine preoperative screening revealed progressive ascending aortic dilation linked to the MYLKM variant, leading to postponement of ocular surgery due to increased anesthetic risk.
DISCUSSION: 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.
METHODS: Comprehensive ophthalmic evaluation, multimodal imaging, and systemic assessment were performed. Trio exome sequencing was used as part of the genetic diagnostic work-up. Standard preoperative cardiovascular imaging was completed before planned glaucoma surgery.
RESULTS: A 15-year-old female with OFCD exhibited congenital cataracts, bilateral microcornea, and persistent secondary glaucoma requiring multiple interventions. Trio exome sequencing confirmed a de novo pathogenic BCOR mutation and identified a paternally inherited pathogenic MYLK variant associated with thoracic aortic aneurysm and dissection. Although initially cleared for glaucoma surgery, routine preoperative screening revealed progressive ascending aortic dilation linked to the MYLKM variant, leading to postponement of ocular surgery due to increased anesthetic risk.
DISCUSSION: 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.