Yujia Zhou1,2, Antonina Wojcik1,3, Victoria R Sanders3, Bahram Rahmani1,4, Sudhi P Kurup5,6. 1. Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA. 2. Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, IL, USA. 3. Division of Genetics Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. 4. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. 5. Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA. SKurup@luriechildrens.org. 6. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. SKurup@luriechildrens.org.
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.
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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