Meesmann corneal dystrophy; epithelial corneal dystrophy

Pathology

• fragility of the anterior corneal epithelium
• disorganized & thickened epithelium with widespread cytoplasmic vacuolation & numerous small, round, debris-laden intraepithelial cysts
• rupture of the corneal microcysts
• fine punctate opacities in the cornea

Genetics

• autosomal dominant
• mutations in cornea-specific keratins CK3 (KRT3) & CK12 (KRT12)

Clinical manifestations

• usually asymptomatic until adulthood when rupture of corneal microcysts may cause erosions, producing clinical symptoms including:
  • photophobia
  • contact lens intolerance
  • intermittent loss of visual acuity
• vision rarely seriously impaired
• rarely, subepithelial scarring causes irregular corneal astigmatism & permanent visual impairment

More general terms

• corneal disease (keratopathy)
• genetic disease of the eye

Database

• OMIM: https://mirror.omim.org/entry/122100
• OMIM: https://mirror.omim.org/entry/148043
• OMIM: https://mirror.omim.org/entry/601687