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Home > Medical Reference > Encyclopedia (English)

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Coloboma of the iris - Overview

Definition of Coloboma of the iris:

Coloboma of the iris is a hole or defect of the iris of the eye. Most coloboma are present since birth (congenital).

Considerations:

Coloboma of the iris may look like a black, round hole located in or next to the colored part of the eye (iris). It can look like a black notch of different depths at the edge of the pupil. This gives the pupil an irregular shape. It can also appear as a split in the iris from the pupil to the edge of the iris.

A small coloboma (specially if it is not attached to the pupil), may allow a second image to focus on the back of the eye, causing:

The defect may include the retina, choroid, or optic nerve.

Colobomas are generally diagnosed at, or shortly after birth.

Common Causes:

Coloboma can occur due to:

  • Eye surgery
  • Inherited conditions
  • Trauma to the eye

Most cases of coloboma have no known cause and are not related to other abnormalities. A small percentage of people with coloboma have other inherited developmental problems.

  • Reviewed last on: 10/31/2009
  • Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Olitsky SE, Hug D, Smith LP. Abnormalities of pupil and iris. In: Kliegman RM, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 621.

Guercio JR, Martyn LJ. Congenital malformations of the eye and orbit. Otolaryngol Clin N Am. 2007;40:113-140.

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