Posterior polymorphous dystrophy of the cornea (Schlichting). An unusual clinical variant.
Three members of a family with dominant inherited endothelial dystrophy of the cornea are described. The father showed only subclinical disease with subtle endothelial blisters like those found in Schlichting's dystrophy. His daughter and grandson, however, both suffered from a peculiar, prominent, ring-shaped clouding of the cornea which progressed to severe edema, necessitating keratoplasty. Light, transmission, and scanning electron microscopy revealed an epithelial transformation of the endothelium. While the anterior banded part of Descemet's membrane was well-formed in the central cornea, it was missing in the periphery. This corresponded with the ring-shaped opacity and indicated a very early transformation of the endothelium in this area. We believe that this pedigree represents an unusual clinical variant of posterior polymorphous dystrophy of the cornea.
D000328:Adult; D002675:Child, Preschool; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics* / Q000473:pathology; D003886:Descemet Membrane / Q000648:ultrastructure; D004727:Endothelium / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D008871:Microvilli / Q000648:ultrastructure; D010375:Pedigree; D013577:Syndrome