Cataracts, Congenital, Autosomal Recessive 5

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 form of cataract having so far been reported in only one family.  The parents were second cousins and among their 4 children, three (two boys and a girl) were born with cataracts.  Nothing has been reported regarding the appearance of the lens opacities (cataracts) but all of the children were healthy otherwise.  Vision was not reported.

Genetics: 

This is an autosomal recessive condition in which both copies of a gene have been changed (mutated).  The parents apparently did not have cataracts but since they each carried one copy of the mutation, they could expect the future children would have a 25% risk of being born with cataracts.

Diagnosis and Prognosis: 

The diagnosis is made by an eye doctor.  If the cataracts interfere sufficiently with vision, surgery may be indicated.  Longevity is likely not impacted.

Additional Information
Inheritance/Pedigree: 
Autosomal recessive