COLOBOMA
(colo-bome-a)
CONTENT
Definition
Types of Colobomas
Genetic Concerns
Signs & Symptoms
How is it Treated
What can a Parent Do
DEFINITION
1. A Coloboma is a congenital (present at birth) genetic defect that affects the iris of the eye.
2. This is a condition where a portion of the structure of the eye is absent or missing.
3. This defect may also be known as “keyhole” defect of the iris because the shape of the coloboma is like a keyhole or an upside-down pear.
4. Colobomas occur in about 1 in 10, 000 births. They may be associated with either hereditary or genetic conditions, trauma to the eye or eye surgery.
TYPES OF COLOBOMAS
1. There are many different types of colobomas:
a. Iris coloboma—The iris is the colored portion of the eye. This type may be in one eye (unilateral) or in both eyes (bilateral). The pupil of the eye (the opening in the center of the eye) appears as a black area at the edge of the pupil and has a keyhole or upside-down pear shape.
b. Retinal coloboma—The retina is the light-sensitive lining of the inside of the eye. This type has a notch or cleft in the retina, causing part of it to be missing.
c. Optic disc coloboma—The optic nerve is responsible for sight. This type may cover the optic nerve and the macula (the area of the eye responsible for how well you see).
d. Chorioretinal coloboma—The choriod (core-royed) is another lining inside the eye consisting of blood vessels and is impermeable (resistant) to light.
e. Morning glory syndrome—this type affects the shape of the optic nerve, changing its appearance to look like the inside of the morning glory flower.
2. The Neonatologist and an Ophthalmologist (a specialist in eye problems) will talk with you about your baby’s type of coloboma.
GENETIC CONCERNS
1. A coloboma may be a single or isolated finding and the patient has no other problems. Single or isolated findings are usually not inherited from the parents.
2. Sometimes a coloboma may be inherited from one of the parents and be part of a syndrome. There are several different syndromes.
3. The Neonatologist and Ophthalmologist (a specialist in eye problems) will talk with you about your baby’s type of coloboma.
SIGNS & SYMPTOMS
1. Appearance of an odd-shaped pupil.
2. Loss of vision—how much loss of vision depends on the size of the coloboma and whether the optic nerve and macula are affected.
3. Sometimes the coloboma is seen in the eye with a reduced eye size. This reduced eye size is call microophthalmia (my-crow-op-thal-me-a).
a. Microophthalmia is the poor or limited development of the eye and is often associated with other abnormalities.
b. Treatments for microophthalmia are customized to the individual baby and may include the Ophthalmologist, Plastic Surgeon, Ocularist as well as the baby’s primary doctor.
4. The affects of coloboma can be mild or severe, depending on how large and where the gap (missing structure).
HOW IS IT TREATED
1. The Ophthalmologist (a specialist in eye problems) will examine (look in) your baby’s eyes. This exam will help the ophthalmologist determine what part of the eye is affected and the size and shape of the dark area in the eye.
2. There is no specific treatment for coloboma. The ophthalmologist will manage the baby’s symptoms. Some of these may be:
a. Contact lens
b. Eye patching
3. Again, both our Neonatologist and the Ophthalmologist will talk with your about your baby’s coloboma and the suggested treatment.
WHAT CAN A PARENT DO
1. An important part of the baby getting better is the parents’ love and concern.
2. We encourage you to talk and sing to your baby, gently touch or rub them and hold them close if tolerated by the baby. Talk with your baby’s nurse about this.
3. Your love and attention will go a long way in helping your little one on the road to recovery.
4. Keep up with your baby’s progress each time you visit or call.
Reviewed/Revised: 07/06…..12/10
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