Coloboma of Optic Nerve: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Coloboma of Optic Nerve?
An ophthalmologist, a doctor who specializes in eye care, usually diagnoses and treats coloboma of the optic nerve. A pediatric ophthalmologist, an eye doctor for children, often cares for children. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is coloboma of the optic nerve?
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the optic nerves. The optic nerves carry information from the eyes to the brain.
Eye doctors use the terms optic disc coloboma and optic nerve coloboma for the same thing.
Coloboma can affect one or both eyes. Coloboma of any kind occurs in about 1 in 10,000 people.
Symptoms
Some people with coloboma have no symptoms. Others may have vision loss or blindness, low vision, or sensitivity to light.
Large retinal colobomas, or colobomas that affect the optic nerve, can cause low vision. Low vision means vision loss that cannot be completely corrected with glasses or contact lenses.
With optic disc coloboma, vision can range from mildly to severely affected, and it can be hard to predict from how the disc looks.
Some people with coloboma also have a cataract, which is clouding of the lens of the eye. Some have glaucoma, which is increased pressure inside the eye that can damage the optic nerve. Others have nystagmus, which is involuntary back-and-forth eye movements. Some also have retinal detachment, which is separation of the retina from the back of the eye. Some people with coloboma also have microphthalmia, which means unusually small eyes.
Causes and who gets it
Coloboma arises from abnormal development of the eye. During the second month of development before birth, a seam called the optic fissure closes to form the structures of the eye. When the optic fissure does not close completely, the result is a coloboma.
Coloboma may be caused by changes in many genes involved in the early development of the eye. Most of these genes have not been identified. It may also result from a chromosomal abnormality affecting one or more genes. Alcohol exposure during pregnancy may also raise the risk.
Coloboma often happens together with conditions that affect other parts of the body, like CHARGE syndrome and Wolf-Hirschhorn syndrome. A key link with optic disc coloboma is papillorenal syndrome, also called renal-coloboma syndrome.
Isolated coloboma is coloboma that occurs by itself. Most often, isolated coloboma is not inherited. Most often, only one person in a family is affected. However, the affected person is still at risk of passing the coloboma on to their own children.
Optic disc coloboma has no known link to race or sex.
How doctors diagnose it
Coloboma may be visible at birth, so a doctor may see it during an eye exam. If a child's coloboma is not visible, the doctor can diagnose it with a comprehensive dilated eye exam.
Treatment
Treatment cannot replace the part of the eye that is missing because of coloboma. But there are treatments that can help people with coloboma make the most of their vision.
People with coloboma who have refractive errors may need to wear eyeglasses or contact lenses to see more clearly. If vision loss cannot be corrected with glasses or contacts, special low vision aids can help a person see better. A low vision specialist can help choose the right devices and teach how to use them.
Children who have coloboma in only 1 eye may need an eye patch or special eye drops. These help prevent amblyopia, which is also called lazy eye.
Children and adults may need treatment for other eye conditions related to coloboma, such as cataracts or glaucoma.
When to see a doctor
If your child has coloboma, talk to your doctor about the best plan for their care.
Call 911 or go to the emergency room if you have a sudden change in vision.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Children with coloboma often need specialized care.
Common questions
Can coloboma of the optic nerve affect vision?
Yes, depending on its size and location, coloboma can affect a person's vision. Some people with coloboma have no symptoms.
Can coloboma of the optic nerve be cured?
No, treatment cannot replace the part of the eye that is missing because of coloboma. There are treatments that can help people with coloboma make the most of their vision.
Can coloboma of the optic nerve be passed to children?
Yes, a person with coloboma is still at risk of passing it on to their own children. Most often, isolated coloboma is not inherited, and there is only one affected individual in a family.
Is genetics the only cause of coloboma?
No, things in a baby's environment may also raise the risk, such as alcohol exposure during pregnancy.
Sources
- American Academy of Ophthalmology - EyeWiki: Optic Nerve Coloboma Spectrum
- MedlinePlus Genetics - Coloboma
- National Eye Institute - Coloboma
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
