Microphthalmia, Isolated, with Cataract

Background and History: 

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.


Clinical Correlations: 

The most consistent findings are a small eyeball and cataracts that are present at birth.  Several patients with what may be a unique subset of this combination were considered to be mentally retarded.  Nystagmus was present in yet other families but this may be secondary to poor vision resulting from the lens opacities. 



An autosomal dominant pattern was present in several families but in another family there were large aberrations in whole chromosomes.  Specific single gene mutations were identified in yet other families.  Generally a parent with this combination of eye findings can expect that half of his or her children will have similar eye problems.

Diagnosis and Prognosis: 

The diagnosis can only be made by an ophthalmologist.  There is insufficient data to determine the long term visual prognosis.  General health is not affected.  Cataract surgery may be beneficial but no long term data are available.

Additional Information
Autosomal dominant