Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases

Sophia El Hamichi, Dhariana Acón, Timothy G. Murray, Audina M. Berrocal

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.

Original languageEnglish (US)
Pages (from-to)612-619
Number of pages8
JournalCase Reports in Ophthalmology
Issue number3
StatePublished - Sep 2020


  • Coloboma
  • Optic disc coloboma
  • Optic nerve coloboma
  • Optical coherence tomography angiography

ASJC Scopus subject areas

  • Ophthalmology


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