Cataracts, Congenital, Posterior Polar

Background and History: 

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

Clinical Correlations: 

Many inherited cataracts are present at birth but may not be detected until later.  This is why all newborns should have a complete eye examination.  Early detection and treatment is important to prevent lazy eye (amblyopia), nystagmus ('dancing' of the eyes), and crossing of the eyes.  Inherited forms of cataracts are usually bilateral.  These often become more dense over time as well.  All infants and children should have serial monitoring so that cataract surgery can be performed at an appropriate time.  

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 lens opacities 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