Meesmann corneal dystrophy

What causes Meesmann corneal dystrophy (MECD)?

MECD is a genetic disease passed through families in an autosomal dominant manner. It is 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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: Cornea Research Foundation of America 9002 N. Meridian Street, Suite 212
Indianapolis, IN, 46260, United States
Phone: 317-844-5610 Fax : 317-814-2806 Email: http://www.cornea.org/Contact.aspx Url: http://www.cornea.org
Name: Corneal Dystrophy Foundation 6066 McAbee Rd.
San Jose, CA, 95120 , United States
Phone: 1-866-807-8965 Email: contact@cornealdystrophyfoundation.org Url: https://www.cornealdystrophyfoundation.org/support-groups
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. Reference Link Jalbert, I, Stapleton, F. Management of Symptomatic Meesmann Dystrophy Optometry and Vision Science. October 2009; 86(10). E1202-E1206. Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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