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 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:
- Blurred vision
- Decreased visual acuity
- Double vision
- Ghost image
Most colobomas are diagnosed at birth or shortly afterward.
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. Some are due to a specific genetic defect. 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.
Keyhole pupil; Iris defect
Brodsky MC. Congenital optic disc anomalies. In: Yanoff M, Duker JS, eds. Ophthalmology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 9.5.
Freund KB, Sarraf D, Mieler WF, Yannuzzi LA. Congenital and developmental anomalies of the optic nerve. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. The Retinal Atlas. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 15.
National Eye Institute website. Coloboma. www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/coloboma. Updated August 2019. Accessed September 16, 2019.
Olitsky SE, Hug D, Plummer LS, Stahl ED, Ariss MM, Lindquist TP. 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.
Review Date 12/2/2017
Updated by: Franklin W. Lusby, MD, ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Editorial update 09/16/2019.