Optic Atrophy 10

Background and History: 

The optic nerve connects the eye to the brain, and carries visual signals from the retina that enables us to see.  Consequently, any disease that damages this nerve can result in vision loss.  A number of gene mutations lead to defects of such nerve conduction which may begin with damage to the nerve cells of the retina.

Clinical Correlations: 

Optic atrophy 10 leads to vision loss sometime in early childhood.  The optic nerves appear pale.  Color perception is reduced and there is often a to-and-fro jerkiness in eye movements (nystagmus).  Specialized retinal testing reveals decreased responses.

Some patients have gait unsteadiness (ataxia) with learning problems and seizures.  Mental retardation has been reported.


This is an autosomal recessive condition resulting from the presence of two mutations, one contributed by each normal carrier parent.   Such parents convey a risk of 25% of this disorder to each of their children.  A brother and sister from consanguineous parents have been reported. 

Diagnosis and Prognosis: 

The diagnosis is usually made by an eye doctor or a neurologist.  The prognosis is variable depending upon the amount of brain abnormalities.  No details on the progression of vision loss are available.  There is no treatment to reverse the vision loss but low vision aids may be helpful.

Additional Information
Autosomal recessive