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
  • associated with p.Pro99Ser variant of C20orf79
• 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)

Diagnostic procedures

• slit-lamp examination
  • vesicles, opacities or band-like lesions

Complications

• increased risk of glaucoma (type 3)

More general terms

• genetic disease of the eye

Database

• OMIM: https://mirror.omim.org/entry/609140
• OMIM: https://mirror.omim.org/entry/609141
• OMIM: https://mirror.omim.org/entry/122000