Nystagmus 5, Congenital, X-linked

Background and History: 

Nystagmus, sometimes called ‘dancing eyes’ comes in many forms and has multiple causes.  It may result from other eye disease or from more general neurological conditions.  When present at birth (congenital), it is usually inherited in one of several patterns.  Usually there is some reduction in vision since patients are unable to focus steadily on objects.

Clinical Correlations: 

In nystagmus 5, abnormal eye movements may be evident at birth but may not appear until about a year of age.  No other eye or neurological disease is present.  Nothing is known about the impact on vision.

Genetics: 

The genetics of this condition is murky.  No mutation has been identified but it may be X-linked since a suspected region has been identified on the X-chromosome.  Females primarily are affected suggesting to some that this may be an X-linked dominant condition that reduces male survival.

Diagnosis and Prognosis: 

This form of nystagmus may be detected first by a pediatrician or an eye doctor.  Infants should be thoroughly evaluated especially by a neurologist to rule out other diagnoses.  No treatment for the nystagmus has been reported but low vision aids could be helpful for school children with below normal vision.  Individuals with nystagmus 5 should live a normal healthy life.

Additional Information
Inheritance/Pedigree: 
X-linked dominant, father affected
X-linked dominant, mother affected