Meesmann corneal dystrophy
Meesmann corneal dystrophy is an eye disease characterized by the formation of tiny, fragile cysts in the outermost layer of the cornea.
Overview
This condition affects the corneal epithelium, the clear front covering of the eye that acts as a barrier against foreign materials. Cysts can appear as early as the first year of life and increase in number over time. While often asymptomatic in childhood, the cysts may rupture in late adolescence or adulthood, causing significant eye irritation.
Symptoms
- Increased sensitivity to light (photophobia).
- Twitching of the eyelids (blepharospasm).
- Increased tear production.
- Sensation of a foreign object in the eye.
- Inability to tolerate contact lenses.
- Temporary episodes of blurred vision.
Causes
Meesmann corneal dystrophy results from mutations in either the KRT12 or KRT3 gene. These genes provide instructions for making keratin 12 and keratin 3 proteins. These proteins interact to form the structural framework of the corneal epithelium. Mutations weaken this framework, causing the epithelium to become fragile and develop cysts containing clumps of abnormal keratin and cellular debris.
Inheritance
This condition is inherited in an autosomal dominant pattern, meaning one copy of an altered KRT12 or KRT3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent.
Other Names
- Corneal dystrophy, juvenile epithelial of Meesmann
- Corneal dystrophy, Meesmann epithelial
- Juvenile hereditary epithelial dystrophy
- MECD
- Meesman's corneal dystrophy
- Meesmann corneal epithelial dystrophy
- Meesmann epithelial corneal dystrophy
