Familial Acorea, Microphthalmia and Cataract Syndrome

Background and History: 

This is a rare hereditary condition so far reported in only one family.

Clinical Correlations: 

The eye is small (microphthalmia) as is the cornea (microcornea) and the pupil (opening in the colored part of the eye) is usually absent or obscured by scar tissue (acorea).  Cataracts are present at birth.  Often there are other anomalies in the anterior part of the eye such as adhesions between the iris and cornea.  Sometimes the iris has false openings.  One young adult had glaucoma but this was not documented in other patients.  The retina seems to be normal.

No systemic disease is present in other parts of the body.  Specifically there is no hearing loss or neurological deficit.


The family tree in the single reported family is consistent with autosomal dominant inheritance.  No gene mutation has been found.

Diagnosis and Prognosis: 

Vision is poor from birth.  It can be improved by removing the cataracts and surgically reconstructing the pupil.  Glasses should be prescribed.  Lifelong monitoring is required to detect the onset of glaucoma which must be treated to prevent blindness.

Additional Information
Autosomal dominant