Coloboma of the optic nerve is a congenital (present at birth) eye disorder that involves the optic nerve, the part of the eye that carries images the eye sees to the brain. In this condition, the optic nerve does not completely form correctly. Coloboma of the optic nerve can occur in one or both eyes and can cause severe problems with vision. It is often linked to other eye deformities such as a small eye (micropthalmia), a detached retina (back of the eye), and a small cornea (outer layer of the eye).
Coloboma of the optic nerve can occur from an inherited gene mutation or a sporadic (non-inherited) gene mutation. In some cases, coloboma of the optic nerve is the result of another genetic disease. Mutations (changes) in the PAX6 gene specifically have been linked to coloboma of the optic nerve. We inherit our genes in pairs, one from each parent typically. PAX6 is inherited in an autosomal dominant manner, meaning an individual only needs one copy of the changed gene to have the condition. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.
This condition can be diagnosed by a physical exam, usually within the first year of birth. Often times children will have balance problems learning to walk or sit, or will tilt the head in one direction. Diagnosis can be confirmed through looking at the pupils and the optic disc of the eye.
Low vision aids may be helpful for individuals with coloboma of the optic nerve, and non-prescription glasses should be worn for protection. If you or a family member has been diagnosed with coloboma of the optic nerve, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Aug 29, 2018