Cataracts, Congenital Nuclear

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 type of cataract has been reported in a small number of inbred Pakistani and Arab families.  The opacification of the lenses is located centrally in what is known as the nucleus and it may be sufficiently dense to interfere with vision from birth.  Cataracts may be present at birth or develop within a few months of life.  No other eye problems or systemic disease are present.


At least 3 types of cataract belong to this category.  All are autosomal recessive conditions in which both copies of a gene have been changed (mutated).  Only a few families have been reported and the parents were related to each other.  The parents apparently do not have cataracts but since they each carry one copy of the mutation, they can expect their future children to each have a 25% risk of having this type of cataract.

Diagnosis and Prognosis: 

The diagnosis is made by an eye doctor.  If the cataracts interfere sufficiently with vision, surgery may be indicated, sometimes in children under two years of age, to prevent permanent amblyopia (lazy eye).  Longevity is likely not impacted and no other disease is present.

Additional Information
Autosomal recessive