Optic Nerve Coloboma Associated with Persistent Fetal Vasculature and Microphthalmia in the Setting of CHARGE Syndrome

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File number: 48701


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    • By Sophia El Hamichi, MD
      Murray Ocular Oncology and Retina
      Co-author(s): Timothy G Murray, MD, Murray Ocular Oncology and Retina; Audina M Berrocal, MD, Bascom Palmer Eye Institute
    • Uploaded on Feb 3, 2020.
    • Last modified by Caroline Bozell on Feb 4, 2020.
    Appears in
    Pediatric Retina
    CHARGE syndrome, optic nerve coloboma, persistent fetal vasculature (PFV), microphthalmos
    Abby Orcutt-Hayes, Murray Ocular Oncology and Retina
    Imaging device
    Fundus camera
    An 8-month-old male referred for ophthalmic evaluation in the setting of CHARGE syndrome. EUA revealed microphthalmia with persistent fetal vasculature and optic disc coloboma OS (depicted in image A: fundus photograph and image B: fluorescein angiogram). OD exam revealed dysplastic microphthalmia.

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