Optic Atrophy 9

Background and History: 

The optic nerves connect the eye to the visual system in the brain.  Many disorders of the brain have evidence of optic nerve damage (atrophy) but there are a number of conditions in which optic atrophy occurs without other neurological disease such as this one. 

Clinical Correlations: 

So far only one family consisting of two brothers with this type of optic atrophy has been reported as determined from gene studies.  The optic atrophy was discovered at the ages of 3 and 5 years as the result of visual complaints.  In the third decade they were legally blind but there was little progression into the 4th and 5th decades. Mild colorblindness was present and the optic nerves were pale.  Their visual fields had blind spots.


This is an autosomal recessive condition in which both members of a specific pair of genes are changed (mutated).  The parents who each contributed one mutation are clinically normal.  However, there is a 25% chance that they will both contribute one mutation to their children thus conferring a one in four chance that each child will have optic atrophy.

Diagnosis and Prognosis: 

The exact age at which optic atrophy is first present is unknown and it is possible that it is present at birth.  Most likely the diagnosis will be made later when a child has vision problems.  Since there are no other signs or symptoms, an ophthalmologist will most likely make the diagnosis based on a complete eye examination.

There is no evidence that longevity is impacted.  There is no treatment for optic atrophy but the use of low vision aids can be of great benefit for educational and daily activities.

Additional Information
Autosomal recessive