Opacification of the lens in the eye resulting in loss of transparency is called a cataract. Cataracts that appear in infants or childhood are generally called congenital or developmental cataracts. All newborns should have a complete eye examination since early detection and treatment can be important to prevent lazy eye (amblyopia).  Cataracts 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 are familial and these are usually caused by single gene mutations.

In the disorder(s) described here, the eyeball is also smalland some patients have nystagmus (dancing eyes).  It is uncertain whether this is a single disorder or perhaps three or more.