Macrophthalmia with Microcornea and Colobomas

Background and History: 

A large number of eye malformations involve the globe and the cornea.  Many are quite rare and this disorder is one of them.  Its existence as a unique entity has yet to be established.

Clinical Correlations: 

The eyeball is larger than normal causing nearsightedness.  The cornea (windshield of the eye) is smaller and flatter than normal and often the iris lacks a round pupil with a defect extending into the eyeball that may extend to the optic nerve in the back.  Depending on the degree of involvement of the nerve, vision may vary widely.  Some patients also have glaucoma.  No abnormalities elsewhere in the body have been reported.

Genetics: 

This disorder is inherited in a vertical pattern as it is passed from one generation to the next in what is called an autosomal dominant pattern of inheritance.  The risk of this disorder among offspring to affected individuals is 50 per cent.  No specific gene mutation has been identified.

Diagnosis and Prognosis: 

Additional Information
Inheritance/Pedigree: 
Autosomal dominant