SNP Shot: Genomic Insights

Meesmann corneal dystrophy is a genetic eye disorder impacting the cornea, the transparent outer layer of the eye. This disease is defined by the development of minuscule, spherical cysts within the corneal epithelium, the cornea's outermost layer. The corneal epithelium serves as a protective barrier, preventing foreign substances like dust and bacteria from entering the eye.

Individuals with Meesmann corneal dystrophy may exhibit these cysts from infancy. Typically, both eyes are affected, and the number of cysts increases with age. While often asymptomatic initially, symptoms usually manifest during late adolescence or adulthood. This occurs when the cysts rupture on the corneal surface, causing irritation. Common symptoms include heightened light sensitivity (photophobia), eyelid twitching (blepharospasm), excessive tearing, a feeling of a foreign body in the eye, and difficulty wearing contact lenses. Some individuals may also experience temporary blurred vision.

Inheritance:

Meesmann corneal dystrophy follows an autosomal dominant inheritance pattern. This means that a single altered copy of either the KRT12 or KRT3 gene in each cell is enough to cause the condition. In most instances, an affected individual inherits the altered gene from a parent who also has the condition.