Cataracts 45

Background and History: 

This is a recently described congenital cataract, one of many heritable types.

Clinical Correlations: 

This is an autosomal recessive condition caused by mutations in both members of a specific gene.  The parents, who carry a single copy of the gene change (mutation), are clinically normal with no evidence of cataracts.  However, such parents confer a risk of 25% of developing these cataracts to each child.

Genetics: 

This is an autosomal recessive condition caused by mutations in both members of a specific gene.  The parents, who carry a single copy of the gene change (mutation), are clinically normal with no evidence of cataracts.  However, such parents confer a risk of 25% of developing these cataracts to each child.

Diagnosis and Prognosis: 

An ophthalmologist can diagnose these cataracts with an eye examination.  They can be surgically removed but should be done as soon as diagnosed to lessen the risk of developing 'lazy' eyes (amblyopia).  Patients must be followed for the rest of their lives and corrective lenses used to provide full vision.

There are no associated physical or mental problems and longevity would be expected to be normal.

Additional Information
Inheritance/Pedigree: 
Autosomal recessive