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. Kurup*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2677-2682
Number of pages6
JournalInternational Ophthalmology
Volume38
Issue number6
DOIs
StatePublished - Dec 1 2018

Keywords

  • BCL6
  • BCOR
  • Congenital cataract
  • Oculofaciocardiodental (OFCD) syndrome

ASJC Scopus subject areas

  • Ophthalmology

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