This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Epithelial basement membrane corneal dystrophy (EBMD), also called map-dot-fingerprint dystrophy, is an eye condition that affects the cornea. The epithelium is the cornea’s outermost layer, and the basement membrane is the layer that the epithelium attaches to. EBMD occurs when the epithelial basement membrane develops abnormally, resulting in folds in the tissue. It is sometimes called map-dot-fingerprint dystrophy because when viewed with a special eye test called a slit-lamp exam, the folds form patches that resemble continents on a map, or sometimes, small fingerprints. There may also be clusters of dots around the patches.
Most people with EBMD do not have symptoms and may not be aware they have EBMD. Those who do have symptoms may have mild to severe blurry vision and pain, sensitivity to light, excessive tearing, and a feeling that something is in the eye. The main cause of symptoms is recurring development of erosions in the cornea. Pain from an erosion may occur at any time but is most often experienced upon waking in the morning or during sleep. The pain can range from mild and short-lived to severe, lasting hours or longer. Severe pain may develop if nerve endings in the tissue become exposed. In most cases, symptoms will come and go over several years before going away, without causing permanent vision loss. EBMD usually affects both eyes.
EBMD usually is not inherited, occurring randomly in people with no family history of EBMD. However, familial cases with autosomal dominant inheritance have been reported. In some people with EBMD, a mutation in the TGFBI gene has been identified as the cause. However in most cases, the cause remains unknown.
Treatment options depend on the symptoms and severity in each person, and results differ from person to person. People with no symptoms or mild symptoms may not need treatment. Treatment options may include sodium chloride eye drops or ointment, wearing an eye patch, and using bandage contact lenses to protect the cornea and facilitate healing. If pain or vision loss cannot be improved with these options, outpatient eye surgery may be recommended. Unfortunately, even after treatment, recurrences are common. Using a lubricating ointment at bedtime may help to prevent repeated corneal erosions.
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