Corneal Dystrophy, Lisch Epithelial

Background and History: 

The cornea is the normally clear windshield of the eye.  A number of gene mutations cause a clouding of this tissue so that vision is reduced.  This is the only dystrophy (degeneration) of the cornea caused by a mutation in a gene on the X chromosome.

Clinical Correlations: 

This disorder may have its onset in childhood with the appearance of fuzzy, feathery deposits in a band or whorl pattern in the cornea.  Tiny clear cysts can appear in the anterior surface.  The corneal clouding is progressive and can lead to significant blurriness of vision.  Unlike some forms of corneal dystrophy, there is seldom any irritation or discomfort from the disease.  Contrary to expectations for an X-linked disorder, both males and females have corneal disease.  No systemic abnormalities have been found.


Lisch dystrophy is the result of a mutation on the X chromosome.  In most X-linked disorders, males are primarily affected.  They cannot pass on the disease to their sons since they only give their Y chromosomes to sons. However, in Lisch dystrophy the mutation is dominant so all their daughters (who must receive the mutant X chromosome) may have clinical evidence of disease in their corneas and they can pass the mutated X chromosome to both their sons and daughters.  In such cases, your eye doctor can assist in determining the risk of transmission to children. 

Diagnosis and Prognosis: 

Since only the very superficial tissue of the eye is involved, treatment has been directed toward the removal of this tissue (it grows back in 24-48 hours).  Unfortunately, the little cysts recur in the new layer as well.  It has also been reported that contact lens wear reduces the opacities but they again tend to recur when wear is discontinued.  Treatment is seldom needed however as most patients retain near normal vision throughout life.

Additional Information
X-linked dominant, father affected
X-linked dominant, mother affected