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Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant

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Abstract

Purpose

To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms.

Methods

A retrospective chart review of the patient’s ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES).

Results

The patient had a comprehensive eye exam in infancy demonstrating bilateral congenital cataracts consisting of posterior lenticonus with a posterior cortical opacity. She also had blepharoptosis with a hooded appearance and retinal pigment hypertrophy of the inferior retina bilaterally. Systemic findings include atrial septal defect, patent ductus arteriosus, congenital clubfoot, syndactyly, tethered cord, and laryngeal cleft. WES identified a de novo heterozygous R1136X pathogenic variant in the BCOR gene.

Conclusion

The typical ocular manifestation of OFCD syndrome is congenital cataracts, which can have a significant impact on visual development and so should be considered in patients with multiple medical issues that may fit the diagnosis. A comprehensive eye exam in these patients is thus warranted.

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Acknowledgements

The authors would like to thank Hanta Ralay-Ranaivo, Ph.D. for her assistance with the coordination of manuscript production.

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Authors and Affiliations

  1. Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA

    Yujia Zhou, Antonina Wojcik, Bahram Rahmani & Sudhi P. Kurup

  2. Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, IL, USA

    Yujia Zhou

  3. Division of Genetics Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

    Antonina Wojcik & Victoria R. Sanders

  4. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Bahram Rahmani & Sudhi P. Kurup

Authors
  1. Yujia Zhou
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  2. Antonina Wojcik
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  3. Victoria R. Sanders
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  4. Bahram Rahmani
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  5. Sudhi P. Kurup
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Corresponding author

Correspondence to Sudhi P. Kurup.

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The authors declare that they have no conflict of interest.

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Informed consent was obtained from all individual participants included in this article. Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.

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The patient’s parent has consented to the submission of this case report for journal publication.

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Zhou, Y., Wojcik, A., Sanders, V.R. et al. Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. Int Ophthalmol 38, 2677–2682 (2018). https://doi.org/10.1007/s10792-017-0754-5

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  • DOI: https://doi.org/10.1007/s10792-017-0754-5

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