Causes and risk factors
The exact reason why optic nerve hypoplasia develops is not known. However, maternal history of drinking or smoking while in a pregnant state is associated with a higher risk of optic hypoplasia in the baby. Other risk factors include maternal substance abuse and the use of anti-epileptic drugs during pregnancy.
Optic nerve hypoplasia may be associated with anomalies of the brain, especially the pituitary gland. Hence hypopituitarism is a frequently associated finding of optic nerve hypoplasia.
Clinical presentation
The affected eye or both the eyes develop varying degrees of loss of vision. Both the eyes may develop nystagmus. Strabismus may be present in association with optic nerve hypoplasia.
Investigations
Hypoplasia of the optic nerve is diagnosed on the basis of ophthalmic examination. The optic nerve appears small or pale. An MRI scan of the brain may be performed to confirm.
Treatment
Unfortunately there is no curative treatment for optic nerve hypoplasia. When only one eye is affected, the other eye is occluded in order to improve vision in the affected eye.
When to contact a doctor
Contact a doctor as soon as you experience any loss of vision.
Prevention
Avoiding intake of alcohol, smoking, and substance abuse drugs during pregnancy may help to lower the baby’s risk of developing optic nerve hypoplasia.
Facts and figures
Optic nerve hypoplasia is the commonest congenital anomaly of the optic nerve.
Systems involved
Ophthalmic, CNS
Organs involved
Eyes, optic nerve
