Meesmann corneal dystrophy

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Meesmann corneal dystrophy
Meesmann corneal dystrophy - Multiple opaque spots in the corneal epithelium.JPEG
Synonyms Meesmann epithelial corneal dystrophy, Meesmann dystrophy
Pronounce N/A
Specialty N/A
Symptoms Corneal epithelium microcysts, vision disturbances
Complications Corneal erosion, photophobia
Onset Early childhood
Duration Lifelong
Types N/A
Causes Mutations in KRT3 or KRT12 genes
Risks Genetic predisposition
Diagnosis Slit-lamp examination, genetic testing
Differential diagnosis Other corneal dystrophies
Prevention N/A
Treatment Lubricating eye drops, contact lenses, keratoplasty
Medication N/A
Prognosis Generally good with management
Frequency Rare
Deaths None directly attributable


Autosomal dominant inheritance pattern

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.

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NIH genetic and rare disease info[edit source]

Meesmann corneal dystrophy is a rare disease.


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Contributors: Prab R. Tumpati, MD