Lifespan's A - Z Health Information Library

Coloboma of the iris is a congenital (present since birth) defect of the iris of the eye. It is visible as a hole, split, or cleft in the iris.

Coloboma of the iris may appear as a black, round hole located in or adjacent to the iris (colored portion of the eye). It can appear as a black notch of varying depth at the edge of the pupil, giving 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 secondary image to focus on the back of the eye, causing a ghost image, blurred vision, or decreased visual acuity.

Coloboma may be associated with hereditary conditions, trauma to the eye, or eye surgery. The defect may extend to the retina, choroid, or optic nerve.

Most cases of coloboma have no known cause and are not associated with other abnormalities. A small percentage of people with coloboma have other inherited developmental abnormalities.

Colobomas are generally diagnosed at, or shortly after birth. There is no home care.

• You notice that your child has what appears to be a hole in the iris or an unusual-shaped pupil.
• Vision becomes blurred, or decreased vision is noted.

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.

The doctor will take a medical history and conduct 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. A dilated exam of the inside of the eye should be done. Other tests may include 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.