Cataracts, Congenital, With Short Stature and Minor Skeletal Anomalies

Background and History: 

Cataracts consist of opacities of the lens in the eye.  They may occur by themselves and are usually bilateral but others are accompanied by additional ocular and systemic abnormalities.  Many, but not all, are inherited. 

The condition described here has been reported in a single Korean family with three, and possibly four, affected individuals.

Clinical Correlations: 

Patients are likely affected at birth (congenital onset) although only one member of the reported family was noted to have cataracts as early as 4 days old.  The lens opacities are accompanied by nystagmus consisting of a constant horizontal to-and-fro movement (horizontal nystagmus).

The head is abnormally large at birth and short stature was also reported.  The fingers may be abnormally short and the feet contain small extra bones.


This is an autosomal dominant condition based on the transmission pattern in the reported family.  A specific gene change (mutation) is responsible.  An affected parent has a 50% chance of passing the mutation to each of his or her children.

Diagnosis and Prognosis: 

The skeletal features are not striking and unlikely to suggest the diagnosis by themselves.  An eye examination by a medical eye doctor (ophthalmologist) is required to identify the cataracts.  Such examinations should be mandatory at birth for families with a history of congenital cataracts.

The only treatment for cataracts is surgical removal.  For those present at birth it is important that they be removed shortly (days or weeks) after birth due to the risk of developing a "lazy eye" (amblyopia).  Vision may not be fully restored following cataract removal and low vision aids can be helpful in such situations.

No other treatment is known.  It is unlikely that this disorder has any impact on longevity.

Additional Information
Autosomal dominant