Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification

Background and History: 

This is a recently described disorder found among Arabian people in the Middle East.     

Clinical Correlations: 

Infants have dense cataracts at birth.  Hemorrhages into brain tissue lead to cystic brain damage and developmental delays.  The reflexes are exaggerated and infants are often stiff. They may have frequent seizures.  The forehead is prominent. The liver is sometimes enlarged and the kidneys may be small and located in unusual positions.  Most individuals do not live beyond infancy although several have lived to at least 3 years of age.



This is an autosomal recessive condition caused by the inheritance of a mutation from both father and mother.  When both parents (who are normal) carry the specific mutation the risk for each of their children to inherit the disorder is 25%.

Diagnosis and Prognosis: 

An ophthalmologist can diagnose the cataracts at birth.  Pediatricians and neurologists could diagnose this disorder with the aid of brain CT and MRI scans.  No treatment is available.

Additional Information
Autosomal recessive