Table of ContentsView AllTable of ContentsColoboma and Eye AnatomySymptomsCausesDiagnosisTreatmentHow To Cope
Table of ContentsView All
View All
Table of Contents
Coloboma and Eye Anatomy
Symptoms
Causes
Diagnosis
Treatment
How To Cope
Colobomais a congenital (present at birth) abnormality of the eye. Colobomas are missing pieces of tissue that may appear as gaps or notches. When coloboma affects theiris, it manifests as a keyhole or cat-eye appearance of the pupil.
Coloboma is estimated to affect 1 in 10,000 people.The condition does not always change the appearance of the eye, nor does it, in every instance, impact a person’s vision. Therefore, it is thought that it is likely undiagnosed in some people.
This article discusses the symptoms, causes, diagnosis, and treatment options for coloboma.
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Colobomas may involve one or several structures of the eye, including:
Coloboma Symptoms
Symptoms of coloboma may include:
Colobomas do not usually impair vision unless they affect the retina or optic nerve.
Other Eye Conditions
Coloboma often accompanies other conditions of the eye, including:
Colobomas can occur alone (called non-syndromic or isolated colobomas) or be part of a syndrome that impacts other organs and tissues (called syndromic colobomas).
It’s important to distinguish colobomas of the eyeball from gaps in the eyelids (also referred to as colobomas). Eyelid colobomas arise from abnormalities in different structures than eyeball colobomas, during fetal development.
Causes of Coloboma
The cause of coloboma is abnormal eye development in utero (in the womb), specifically during the second month of fetal development. The defect results from a seam (called the optic fissure) failing to close properly during fetal development.
Genetic Impact
Changes in genes that impact the eye’s early development may be linked with coloboma. Many of these genes have been identified, but only in a few people.More studies are needed to link specific genetic defects with the development of coloboma definitively.
Environmental Factors
Environmental factors (such as maternal alcohol use duringpregnancy) may increase the risk of coloboma in the fetus.
How Coloboma Is Diagnosed
When coloboma is suspected, anophthalmologistwill use anophthalmoscopeto examine the infant’s eyes. As the child ages, other tests may be conducted to measure the scope and severity of the condition.These tests may include visual acuity tests (to measure the presence and severity of visual loss).
Coloboma Treatment
Although there is no cure for coloboma, some treatment options are available. For those with vision impairment, treatment aims to help a child adjust.Some of the associated conditions of coloboma (such as cataracts) can be treated. Treating cataracts, glaucoma, or other associated eye conditions will help to improve vision but will not completely solve the problem.
Treatment for colobomas that affect the iris can help it appear normal. This may involve a colored contact lens or lenses (when both eyes are affected) to make the iris look round.There is also a surgical procedure that can be done to correct the appearance of the iris. Those with coloboma of the iris may benefit from wearing tinted glasses to help with sensitivity to light.
Vision Problems
Treatment for those with vision problems from coloboma may include:
Preventative Treatment
Preventative treatment to prevent lazy eye (for a child with coloboma in just one eye) may involve treatment to the unaffected eye, such as:
Experts believe these treatment options may help improve vision, even with severe cases of colobomas.
If you have a child with coloboma, you probably know that it is an instinct to worry about your child. Your child may have normal vision or some vision loss, but you may still be concerned about the future.
Staying abreast of the latest in education about coloboma, being familiar with current medical research studies, reaching out for support from other parents, and engaging in formal support systems (such as individual or group therapy) can help.
One of the best ways to help a child with coloboma is to keep eye clinic appointments and examinations. Keeping up with your child’sregular eye screeningswill improve the chances of early detection when new problems arise.Finding problems or detecting a decline in your child’s vision early on will engender the best long-term outcome.
There are many online services, such as telehealth support groups for parents of children who are visually impaired.
Summary
A coloboma is a rare genetic abnormality of the eye. It is missing tissue that appears as gaps or notches. This condition can impact the iris, retina, choroid, and optic nerve. Symptoms may include a keyhole or cat-eye appearance of the pupil, sensitivity to light, vision impairment, and field defects. Colobomas often accompany other eye conditions, such as cataracts, myopia, glaucoma, and more.
An ophthalmologist can diagnose a coloboma. If the coloboma affects the iris, colored contact lenses can help the iris look round, and tinted glasses may help with sensitivity to light. An eye patch, eye drops, and glasses are also treatment options that experts believe will help with vision problems. Sticking to regular eye exams can improve the chances of early detection.
6 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.U.S. National Library of Medicine. Genetics Home Reference.Coloboma.Kellogg Eye Center, Michigan Medicine.Anatomy of the eye.American Academy of Ophthalmology.What is a coloboma?The Charge Syndrome Foundation.Factsheet about coloboma of the eye.National Eye Institute.Coloboma.American Academy of Ophthalmology.Coloboma treatment.Additional ReadingClinicalTrials.gov.Genetics of uveal coloboma.Lighthouse Guild.Parent tele-support group enrollment.
6 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.U.S. National Library of Medicine. Genetics Home Reference.Coloboma.Kellogg Eye Center, Michigan Medicine.Anatomy of the eye.American Academy of Ophthalmology.What is a coloboma?The Charge Syndrome Foundation.Factsheet about coloboma of the eye.National Eye Institute.Coloboma.American Academy of Ophthalmology.Coloboma treatment.Additional ReadingClinicalTrials.gov.Genetics of uveal coloboma.Lighthouse Guild.Parent tele-support group enrollment.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
U.S. National Library of Medicine. Genetics Home Reference.Coloboma.Kellogg Eye Center, Michigan Medicine.Anatomy of the eye.American Academy of Ophthalmology.What is a coloboma?The Charge Syndrome Foundation.Factsheet about coloboma of the eye.National Eye Institute.Coloboma.American Academy of Ophthalmology.Coloboma treatment.
U.S. National Library of Medicine. Genetics Home Reference.Coloboma.
Kellogg Eye Center, Michigan Medicine.Anatomy of the eye.
American Academy of Ophthalmology.What is a coloboma?
The Charge Syndrome Foundation.Factsheet about coloboma of the eye.
National Eye Institute.Coloboma.
American Academy of Ophthalmology.Coloboma treatment.
ClinicalTrials.gov.Genetics of uveal coloboma.Lighthouse Guild.Parent tele-support group enrollment.
ClinicalTrials.gov.Genetics of uveal coloboma.
Lighthouse Guild.Parent tele-support group enrollment.
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