Cataracts, Congenital Cerulean

Background and History: 

Opacification of the lens in the eye is called a cataract.  Cataracts that appear in infants or childhood are generally called congenital or developmental cataracts.  They may arise from a variety of causes including various general developmental syndromes, intrauterine infections such as rubella, chromosomal abnormalities, or inherited disorders of metabolism such as galactosemia.  About one-fourth appear multiple times within families for which no other cause can be found and these are usually inherited from single gene mutations.

Clinical Correlations: 

Early onset cataracts that are inherited are often present to some degree at birth but may not be detected until later.  This is why all newborns should have a complete eye examination and early detection is important to prevent lazy eye (amblyopia).  Inherited forms of cataracts are usually bilateral.  These cataracts are often progressive as well so that serial monitoring is required and cataract surgery is performed at an appropriate time.  However, it is common for nearly everyone to have small, visually insignificant opacities in the lenses that do not progress and cause no difficulty in seeing.  In other words, not all cataracts need to be removed.


Simply inherited developmental cataracts are usually inherited in an autosomal dominant pattern but autosomal recessive and X-linked patterns have been reported as well.

Diagnosis and Prognosis: 

Cataracts are diagnosed by eye doctors but it is important that pediatricians and family doctors are involved as well to ensure that they are not part of a more generalized disorder.  Timely removal of visually significant cataracts is essential to ensure that infants and children retain good vision into adult life.

Additional Information
Autosomal dominant
Autosomal recessive
X-linked recessive, father affected
X-linked recessive, carrier mother