The Role of Mutations on Genes KRT3 & KRT12 in Meesmann Corneal Dystrophy Syndrome

Meesmann corneal dystrophy syndrome is a genetic disorder of the eye that affects the cornea. This condition is characterized by the formation of small round cysts in all parts of the corneal layer, called the corneal epithelium. Meesmann corneal dystrophy syndrome is caused by a mutation in the KRT12 gene, which is located in the long arm of chromosome 17 as 17q21.2, or the KRT3 gene, which is located in the long arm of chromosome 12, as 12q13.13.

Meesmann corneal dystrophy syndrome is a genetic disorder of the eye that affects the cornea. This condition is characterized by the formation of small round cysts in all parts of the corneal layer, called the corneal epithelium. This part of the cornea acts as a barrier to prevent foreign matter such as dust and bacteria from entering the eye.In people with Meesmann corneal dystrophy, cysts may appear very early in the first year of life. They usually affect both eyes and increase in number over time. Cysts usually do not cause any symptoms until late adolescence or adulthood, when they begin to rupture on the surface of the cornea and cause eye irritation. Potential symptoms usually include increased sensitivity to light (photophobia), abnormal blinking (blepharospasm), increased tear production, tenderness in the eye as if a foreign object has entered the eye, and inability to tolerate lens coverage. Some affected people also have a temporary dark area of vision.

https://www.stephypublishers.com/sojnn/pdf/SOJNN.MS.ID.000509.pdf