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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:
a) photophobia
b) contact lens intolerance
c) intermittent loss of visual acuity
- vision rarely seriously impaired
- rarely, subepithelial scarring causes irregular corneal astigmatism & permanent visual impairment
General
corneal disease (keratopathy)
genetic disease of the eye
Database Correlations
OMIM correlations
MORBIDMAP correlations
References
OMIM :accession 122100