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posterior polymorphous corneal dystrophy
Epidemiology: rare
Pathology:
- disorder of the corneal epithelium
- alterations of Descemet's membrane
- metaplasia & overgrowth of corneal endothelial cells; these cells manifest in an epithelial morphology & gene expression pattern, produce an aberrant basement membrane, &, sometimes, spread over the iris & nearby structures in a way that increases the risk for glaucoma
- features present from birth onwards
Genetics:
- autosomal dominant
- type 1
- associated with defects in VSX1 [3]
- associated with p.Pro99Ser variant of C20orf79 [4]
- type 2 associated with defects in COL8A2
- type 3associated with defects in ZEB1
Clinical manifestations:
- slowly progressive disorder of the corneal endothelium that leads to a variable degree of visual impairment usually in adulthood (type 1)
- affected patient typically are asymptomatic (type 2)
Special laboratory:
- slit-lamp examination
- vesicles, opacities or band-like lesions
Complications:
- increased risk of glaucoma (type 3)
General
genetic disease of the eye
Database Correlations
OMIM correlations
References
- OMIM :accession 609140
- OMIM :accession 609141
- OMIM :accession 122000
- Aldave AJ et al
Exclusion of positional candidate gene coding region mutations
in the common posterior polymorphous corneal dystrophy 1
candidate gene interval.
Cornea. 2009 Aug;28(7):801-7.
PMID: 19574904