International Ophthalmology

, Volume 38, Issue 6, pp 2677–2682 | Cite as

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

  • Yujia Zhou
  • Antonina Wojcik
  • Victoria R. Sanders
  • Bahram Rahmani
  • Sudhi P. KurupEmail author
Case Report



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


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


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.


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.


Oculofaciocardiodental (OFCD) syndrome Congenital cataract BCOR BCL6 



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

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

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.

Patient consent

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


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Copyright information

© Springer Science+Business Media B.V. 2017

Authors and Affiliations

  1. 1.Division of OphthalmologyAnn & Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  2. 2.Chicago Medical SchoolRosalind Franklin University of Medicine and ScienceNorth ChicagoUSA
  3. 3.Division of Genetics Birth Defects and MetabolismAnn & Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  4. 4.Department of OphthalmologyNorthwestern University Feinberg School of MedicineChicagoUSA

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