Optic Atrophy with Intellectual Disability

Background and History: 

The optic nerve connects the eye (retina) to the brain and transmits information that the brain processes into images we recognize as sight.  Defects in the optic nerve which interfere with signal transmission can interfere with normal vision.  A common result is paleness of the nerve (often called optic atrophy) that is visible to an eye doctor by looking into the eye.  It may occur during development (and be present at birth) but also subsequently as the result of gene mutations and other causes.

A variety of mutations lead to optic atrophy, in some cases as the sole health problem, but in other cases in association with other neurological problems.  The condition described here is one of optic atrophy in which there may be some minor physical changes as well as defects in mental functioning.

Clinical Correlations: 

Only a few patients with this type of optic atrophy have been described and the full clinical picture remains to be described.  The optic nerves are likely involved at birth for it has been seen in infants.  Progression is unknown.  Crossing of the eyes (strabismus) and some degree of nystagmus (dancing or jerking of the eyes) may be present.  The level of vision remains unknown but it is subnormal.

The ears are prominent and the bridge of the nose is small.  The fingers seem to be small and tapered to some degree.  Developmental delay or some degree of cognitive impairment is common.


This condition is inherited in an autosomal dominant pattern in which affected adults pass the disorder directly to their children with a 50% probability.  Only one mutation is required for the disorder to appear.

Diagnosis and Prognosis: 

Eye doctors such as ophthalmologists are most likely to make the diagnosis but a full neurological examination is necessary to rule out other conditions with optic atrophy.  There is no treatment for the optic nerve disease but visual aids may be helpful, especially during school years.

Additional Information
Autosomal dominant