Corneal epithelial dystrophy

Epithelial basement membrane dystrophy

Overview

Type of disease: Rare conditions

Corneal epithelial dystrophy (EBMD) is a condition that primarily affects the cornea of the eye. The epithelium is the outermost layer of the cornea, and the cornea is a part of the eye that helps in focusing your vision. In this condition, the epithelium of the cornea does not develop normally, and forms folds in the tissue; this usually will happen in both eyes in individuals with EBMD.

Most people with this condition do not have any symptoms, though those that do may have mild to severe blurry vision, mild eye pain, sensitivity to light, excessive crying, and a feeling like something is in the eye. In most cases of EBMD, the symptoms will come and go over several years without causing permanent vision loss.

In most cases, EBMD is not inherited and occurs randomly in individuals. However, in some cases, EBMD may be a genetic condition caused by changes in the TGFBI gene. We inherit our genes in pairs, one from each parent typically. EBMD is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.

Diagnosis of EBMD is made by looking at family history and by performing an eye exam. Treatments may vary based on the severity and presence of specific symptoms; people with mild symptoms may not need treatment at all. Common treatments include sodium chloride eye drops or ointment, wearing an eye patch, and using contact lenses to protect the cornea. If symptoms do not resolve after use of these treatments, eye surgery to replace the cornea may be recommended.

If you or a family member has been diagnosed with corneal epithelial dystrophy, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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