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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Meesmann corneal dystrophy


Other Names for this Disease
  • Corneal dystrophy, juvenile epithelial of Meesmann
  • Juvenile hereditary epithelial dystrophy
  • Meesman dystrophy
  • Meesmann corneal epithelial dystrophy
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Your Question

What is Meesmann corneal dystrophy?

Our Answer

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What is Meesmann corneal dystrophy?

Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane.  Overtime these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion. 

Click here to view an image of the eye which includes an illustration of the epithelial membrane of the cornea.
Last updated: 7/30/2009

What are the symptoms of Meesman corneal dystrophy?

Patients are usually asymptomatic until adulthood when rupture of the tiny cysts on the cornea cause recurrent erosions. Symptoms may include light sensitivity, contact lens intolerance, redness, pain, and occasionally blurred vision (i.e., irregular corneal astigmatism).[1][2] Some people with Meesman corneal dystrophy experience no symptoms.
Last updated: 7/30/2009

What causes Meesmann corneal dystrophy?

Meesmann corneal dystrophy is a genetic disease. It can be caused by mutations in either the KRT12 or KRT3 gene. These genes are thought to play an important role in maintaining normal corneal epithelial function.[2] Meesmann corneal dystrophy is passed through families in an autosomal dominant fashion.
Last updated: 7/30/2009

What is autosomal dominant inheritance?

Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions may occur for the first time in a person in a family due to a spontaneous gene mutation, or these conditions may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.[3]
Last updated: 12/3/2009

How might Meesmann corneal dystrophy be treated?

Treatment is usually not needed unless a person is experiencing symptoms. Most people only need lubricating eye drops. If symptoms are more severe, therapeutic contact lenses or cycloplegic eye drops may be used for severe sensitivity to light (photophobia). Hypertonic saline may be given if symptoms get worse when a person wakes up. Surgical procedures are sometimes tried when these treatments do not help, and may include epithelial debridement, or keratectomy. There is a high risk of recurrence with these procedures. Researchers are also evaluating a form of gene therapy called RNA interference (RNAi) which is also called therapeutic siRNA. This therapy may be able to silence the mutated gene that causes Meesman corneal dystrophy.[1][4][5]

Last updated: 1/2/2014

References