Meesmann corneal dystrophy
Meesmann corneal dystrophy (ICD-10: H18.5) is a rare form of corneal dystrophy, a group of genetic, often progressive, eye disorders characterized by the accumulation of abnormal material in the cornea. The cornea is the clear, dome-shaped surface that covers the front of the eye.
Meesmann corneal dystrophy is caused by mutations in the KRT3 or KRT12 gene. These genes provide instructions for making proteins that are part of intermediate filaments, tough, resilient fibers that provide support and strength to cells. The KRT3 and KRT12 genes are specifically involved in the production of keratins, a type of intermediate filament protein, in corneal epithelial cells. Mutations in these genes alter the structure and function of these proteins, leading to the formation of abnormal, blister-like lesions in the cornea.
Symptoms of Meesmann corneal dystrophy typically appear in early childhood and may include photophobia (light sensitivity), a gritty sensation in the eyes, and mild visual impairment. However, many affected individuals are asymptomatic and the condition is often discovered during a routine eye examination.
Treatment for Meesmann corneal dystrophy is typically supportive and may include the use of lubricating eye drops or ointments to relieve discomfort. In severe cases, a corneal transplant may be necessary.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- Genetics Home Reference: Meesmann corneal dystrophy
- National Organization for Rare Disorders: Meesmann corneal dystrophy
NIH genetic and rare disease info[edit source]
Meesmann corneal dystrophy is a rare disease.
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Contributors: Prab R. Tumpati, MD
