Cataracts, Congenital, Autosomal Recessive 3

Background and History: 

Opacities of the lens in the eye (cataracts) can result from a variety of causes such as infections, trauma, and various systemic diseases.  Some like this one are inherited as the result of a mutation in a gene.

Clinical Correlations: 

This is a rare type of cataract that is present at birth.  Nothing is known about the natural history and rate of progression, if any.  It has only been reported in two families in Pakistan.  In one family only cataracts were present and in the other the cornea (windshield of the eye) was small and there were scars present.  In the latter family, individuals also had nystagmus (dancing of the eyes). 


The parents in each family were related but the families apparently not. This suggests autosomal recessive inheritance in which mutations in the two copies of the gene must be present for the cataracts to be expressed.  Parents of these children can expect that each future child has a 25% chance of being born with cataracts.  Nothing is known about the specific mutation causing these cataracts.

Diagnosis and Prognosis: 

Ophthalmologists are usually the specialists that diagnose cataracts.  If they interfere with vision, surgery for removal is required.  No other disease is present.

Additional Information
Autosomal recessive