Coloboma of the Optic Disc and Retina

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.


  1. 1.

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

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Correspondence to Paul B. Aronowitz MD.

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Aronowitz, P.B., Judge, J.K. Coloboma of the Optic Disc and Retina. J GEN INTERN MED 32, 1160 (2017).

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  • clinical image
  • diagnosis
  • ophthalmology
  • neurology