Nystagmus 6, 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: 

The abnormal movement of the eyes may be noticed as early as 6 months of age.  Vision is reduced to the range of 20/50 to 20/60.  This is a stable condition and does not progress.  Affected males have evidence of abnormal development of the central retina (macula) and the pigment of the retina appears irregular or 'mottled'.  Females do not have this condition.  General health is normal.

Genetics: 

This is an X-linked disorder in which only males are affected.  A father with this condition cannot pass it to any of his children but all his daughters will be carriers like their paternal grandmother.  Carrier mothers can expect that half of their sons will have nystagmus and half of their daughters will be carriers like their mother.  This pattern of inheritance is known as X-linked recessive.

Diagnosis and Prognosis: 

Pediatricians and ophthalmologists are likely to make this diagnosis.  It is important that complete physical and neurological examinations are done to rule out other conditions with which nystagmus is associated.  Patients can look forward to a normal, healthy life.  School children might benefit from the use of low vision aids.

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