Journal of General Internal Medicine

, Volume 32, Issue 10, pp 1160–1160 | Cite as

Coloboma of the Optic Disc and Retina

  • Paul B. AronowitzEmail author
  • Jody K. Judge
Clinical Practice: Clinical Images


clinical image diagnosis ophthalmology neurology 

A 20-year-old man without significant past medical history presented for routine eye examination. He had recently noticed difficulty with distance vision and was found to have mild symmetric myopia. Best-corrected visual acuity was 20/20 in each eye.

A slit lamp examination revealed a normal left optic fundus (Fig. 1). Exam of the right eye revealed an optic disc coloboma (Fig. 2, small arrow) and two retinochoroidal colobomas (Fig. 2, large arrows).
Figure 1

Left eye (normal).

Figure 2

Right eye illustrating optic disc coloboma (small arrow) and two retinochoroidal colobomas (large arrows).

An ocular coloboma is a congenital abnormality caused by failed closure of the embryonic or choroidal fissure during fetal development, and can occur in the eyelid, iris, lens, retina or optic nerve.1 If the defect extends to the central region of the retina or optic nerve, vision may be impaired. Colobomas can be unilateral or bilateral and may be associated with a variety of ocular complications, including amblyopia and refractive error. Retinochoroidal colobomas may cause choroidal neovascularization (CNV) and retinal detachment. The patient returned for visual field testing, which showed a superotemporal defect, correlating with the inferior optic disc coloboma. He was advised to follow up for yearly eye exams to monitor for early signs of CNV or retinal detachment.


Compliance with Ethical Standards

Conflict of Interest

The authors declare that they do not have a conflict of interest.




  1. 1.
    Pagon RA. Ocular coloboma. Surv Ophthalmol. 1981;25(4):223–36.CrossRefPubMedGoogle Scholar

Copyright information

© Society of General Internal Medicine 2017

Authors and Affiliations

  1. 1.Department of Internal MedicineUniversity of California, Davis School of MedicineSacramentoUSA
  2. 2.Ophthalmic Consultants of BostonCambridgeUSA

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