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 QuestionWhat is Meesmann corneal dystrophy?
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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. Over time these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most, but not all, cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion.
Last updated: 5/22/2015
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). Some people with Meesman corneal dystrophy experience no symptoms.
Last updated: 7/30/2009
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. Meesmann corneal dystrophy is passed through families in an autosomal dominant fashion.
Last updated: 7/30/2009
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.
Last updated: 12/3/2009
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.
Last updated: 1/2/2014
- Corneal Dystrophies. In: Traboulsi EI. Genetic Diseases of the Eye. New York, NY: Oxford University Press; 1998;
- Meesmann corneal dystrophy. Genetics Home Reference. 08/2012; http://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy. Accessed 5/22/2015.
- What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.
- Liao H, Irvine AD, Macewen CJ, Weed KH, Porter L, Corden LD, Gibson AB, Moore JE, Smith FJ, McLean WH, Moore CB. Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy. PLoS One. 2011; 6(12):e28582. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3236202/. Accessed 1/2/2014.
- Jalbert, I, Stapleton, F. Management of Symptomatic Meesmann Dystrophy. Optometry and Vision Science. October 2009; 86(10):E1202-E1206. http://www.ncbi.nlm.nih.gov/pubmed/19741557. Accessed 1/2/2014.
- Gordon K Klintworth. Corneal dystrophies. Orphanet Journal of Rare Diseases. 23 February 2009; 4:7:http://www.ojrd.com/content/4/1/7. Accessed 5/22/2015.