Optic Nerve Hypoplasia

Optic nerve hypoplasia occurs when the optic nerve does not fully develop and is smaller than usual.  Children may have optic nerve hypoplasia in one eye or both eyes.  Optic nerve hypoplasia may be associated with poor vision due to the optic nerve being underdeveloped.  Some children with milder cases of optic nerve hypoplasia have fairly normal vision.

Children with optic nerve hypoplasia may have nystagmus in the affected eye or strabismus.  Optic nerve hypoplasia is diagnosed by clinical examination.  The precise cause remains unknown.  Treatment to improve vision in the affected eye may involve patching, although the success rate is substantially less compared with children who have amblyopia. 

Magnetic resonance imaging (MRI) may be investigated in some cases, particularly if the child's growth and development are abnormal.  Optic nerve hypoplasia may be associated with underdevelopment of other parts of the brain, particularly the pituitary.  Some children with optic nerve hypoplasia also have a condition termed septo-optic dysplasia, DeMorsier's syndrome.   Septo-optic dysplasia involves underdevelopment of certain midline structures within the brain.  A referral to a pediatric endocrinologist who specializes in hormone disorders and hormone replacement therapy may be in order.

The condition is generally stable and non-progressive in nature.  Over time, vision may slowly improve in some children.   In children with strabismus, surgery may be indicated to reconstruct the appropriate alignment of the eyes.   If your child has significant vision loss from optic nerve hypoplasia, please consult our patient education for more information.