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Definition:
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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).
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Considerations:
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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:
The defect may include the retina, choroid, or optic nerve.
Colobomas are generally diagnosed at, or shortly after, birth.
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Common Causes:
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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.
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Call your health care provider if:
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Contact your health care provider if:
- You notice that your child has what appears to be a hole in the iris or an unusual-shaped pupil.
- Your child's vision becomes blurred or decreased.
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.
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What to expect at your health care provider's office:
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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:
- Dilated exam
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MRI imaging of the brain and nerves connecting the eye to the brain
After seeing your health care provider:
You may want to add a diagnosis related to a coloboma to your personal medical record.
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References:
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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.
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