Keratoendotheliitis fugax hereditaria. A clinical and specular microscopic study of a family with dominant inflammatory corneal disease.
A peculiar hereditary corneal disease seen in one pedigree is presented. The disease manifests itself as transient attacks of kerato-endotheliitis. These attacks last from a few days to some weeks. Clinically, corneal oedema and endothelial guttata-like changes with very slight anterior chamber reaction can be seen; after many attacks there may be permanent opacities in the stroma. Endothelial specular photography during an attack reveals dramatic changes: large black nonreflecting areas between quite normal-looking hexagonal cells. Also between the attacks and among family members who have no clinical corneal disease, changes in the endothelium: black spots in the centres of endothelial cells and marked pleomorphism, are to be seen. Among the family members a high incidence of collagen diseases was found.
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004727:Endothelium / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007634:Keratitis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics; D008297:Male; D008853:Microscopy; D008875:Middle Aged; D010375:Pedigree; D010781:Photography