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Coloboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital).
Keyhole pupil; Iris defect
Coloboma of the iris can look like a second pupil or a black notch 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. This may cause:
Most colobomas are diagnosed at birth or shortly afterward.
Coloboma can occur due to:
Most cases of coloboma have no known cause and are not related to other abnormalities. A small number of people with coloboma have other inherited developmental problems.
Contact your health care provider if:
You may also need to see an eye specialist (ophthalmologist).
Your health care provider will take a medical history and do an exam.
Since the problem is most often diagnosed in infants, knowing about the family history is very important.
The health care provider will do a detailed eye exam that includes looking into the back of the eye while the eye is dilated. An MRI of the brain, eyes, and connecting nerves may be done if other problems are suspected.
Slamovits TL, Mbekeani JN,Glaser JS. The Pupils and Accommodation. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology. 2013 ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2013: vol 2, chap 15.
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.