EDICT Syndrome

Background and History: 

This is a recently described syndrome that involves a number of structures in the front part of the eye including the cornea, lens and iris.

Clinical Correlations: 

This disorder has only been reported in a single extended 3 generation family.  Individuals are born with a specific type of cataract which may require removal in childhood.  The cornea is mildly cloudy and has a number of structural abnormalities that interfere with vision to the extent that corneal transplantation is necessary in order to restore clear vision.  The pupil is often displaced and dilates poorly.


This is an autosomal dominant disorder that is passed on from parents to children.  No specific causative mutation has been found but an area on chromosome 15 likely contains the responsible gene.

Diagnosis and Prognosis: 

Impaired vision is the outstanding symptom.  The cloudy cornea is visible by simple inspection but only an eye professional can distinguish this disorder from similar ones with cloudy corneas.  Prognosis is good but cataract removal and/or corneal transplantation may be necessary to restore good vision.

Additional Information