Coloboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital).
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 (especially if it is not attached to the pupil) may allow a second image to focus on the back of the eye, causing:
Colobomas are generally diagnosed at, or shortly after, birth.
Coloboma can occur due to:
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.
Contact your health care provider if:
Note: It is appropriate to see an ophthalmologist for vision problems. Your primary health care provider may need to help rule out disorders associated with coloboma of the iris.
Your health care provider will take a medical history and do an examination.
The patient is usually an infant, and the family history will be most important.
The physical examination will include a detailed eye examination, which may involve:
After seeing your health care provider:
You may want to add a diagnosis related to a coloboma to your personal medical record.
Olitsky SE, Hug D, Plummer LS, Stass-Isern M. Abnormalities of pupil and iris. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 614.
Updated by: 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.
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