Oculomotor Apraxia

Background and History: 

Abnormal eye movements are often part of other, more generalized, neurological disorders.  However, rare individuals may have such symptoms without other health problems as in this disorder  

Clinical Correlations: 

This condition may be apparent shortly after birth when it is evident that infants are unable to turn their eyes appropriately to look at targets.  The deficit is almost entirely in horizontal gaze and most children are able to look up and down without difficulty.  Most youngsters learn quickly to turn their head instead but do so in a halting, jerky fashion.  The condition is not progressive and, in fact, many older individuals actually have less difficulty moving their eyes suggesting that there can be some improvement.

In most cases there are no other health problems but mild developmental delay or speech difficulties have been reported in a few patients.



The genetics of oculomotor apraxia are murky since no responsible gene mutation has been identified.  Familial cases, including twins, have been reported some of whom were offspring of consanguineous (related) parents suggesting autosomal recessive inheritance.  However, other families have been seen in which cases occurred in multiple generations suggesting autosomal dominant inheritance.  Most likely several disorders are represented.

Oculomotor apraxia may also be seen in neurological syndromes, most commonly when a part of the brain known as the cerebellum is improperly developed.

Diagnosis and Prognosis: 

The diagnosis is usually made by a neurologist or by an ophthalmologist who has ruled out other eye disease based on an eye examination.  The prognosis is excellent and many patients actually improve.

Additional Information
Autosomal dominant
Autosomal recessive