Coloboma of the iris
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:
If it is congenital, the defect may include the
, , or optic nerve.
Most colobomas are diagnosed at birth or shortly afterward.
Coloboma can occur due to:
Trauma to the eye
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.
When to Contact a Medical Professional
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.
In addition to your child, you may also need to see an eye specialist (ophthalmologist).
What to Expect at Your Office Visit
Your 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 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.
Brodsky MC. Congenital optic disc anomalies. In: Yanoff M, Duker JS, eds. Ophthalmology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 9.5.
Olitsky SE, Hug D, Plummer LS, et al. Abnormalities of pupil and iris. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 622.
- Last reviewed on 11/4/2015
- Franklin W. Lusby, MD, ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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