Nystagmus 2, Congenital, AD

Background and History: 

Nystagmus (sometimes called ‘dancing eyes’) in all its forms has been known since antiquity.  It is a type of bilateral involuntary eye movement disorder usually manifest as a slow movement in one direction and a rapid motion in the other direction.  It is present physiologically in everyone to a minor degree under certain conditions but it is often pathologic when exaggerated movements are present.  Movements may be in any direction but usually the motion is horizontal.  Since the eye cannot fixate steadily, vision is reduced to some degree in pathologic conditions.

Clinical Correlations: 

Involuntary, rhythmic eye movements occur in a wide variety of conditions such as central nervous system disease, drug toxicity, retinal disease, metabolic disease, and are a feature of many congenital disorders with developmental delays.  However, it may also occur in isolation and can be hereditary in which case it is often called idiopathic congenital nystagmus.  In such individuals it is usually noted shortly after birth and the abnormal movements are typically horizontal, in which case it is typically described as a ‘to-and-fro’ motion.

Once established, it is a permanent but stable condition although frequency and amplitude of motion may change slightly.  It may be present at birth but usually is not evident until 3-6 months of age. Because the eye cannot fixate steadily on objects, vision is below normal, usually in the range of 20/50-20/60 although it may be somewhat worse.  Since visual acuity of 20/40 or better is required for driving and most reading tasks, some disability is present.  Complete elimination of the involuntary movements is not possible with current treatments although improvement in vision has occasionally been reported following surgery on the eye muscles and sometimes correction lenses are helpful to some degree.  It is not unusual for patients to find a ‘null’ point in certain directions of gaze that reduces the amplitude of movement resulting in a slight improvement in vision.  This may lead to an evident head turn, especially when looking at near targets.  Surgical attempts to move the eyes to a position of least motion have met with mixed results.

No systemic disease is associated with idiopathic congenital nystagmus.

Genetics: 

Family trees of this type of nystagmus demonstrate autosomal dominant transmission.  That is, a parent with nystagmus will transmit it to half of his/her offspring.  Both sexes are equally affected.  No specific gene change (mutation) has been identified in this condition but an association with a specific location on chromosome 6 has been found.

Diagnosis and Prognosis: 

While no curative treatment is available for infantile onset idiopathic congenital nystagmus, it is important to obtain thorough ophthalmological, medical and neurological evaluations.  In most individuals the eye movements are evident from simple inspection, but it is important to rule out causative neurologic and eye diseases which may be treatable.  In the absence of such disorders, the nystagmus condition remains.  Appropriate eye muscle surgery may be indicated when a significant head deviation is present to prevent secondary changes in neck muscles that may not be correctable later.

Additional Information
Inheritance/Pedigree: 
Autosomal dominant