Endothelial cells in dominant cornea guttata.
A family with autosomal dominant cornea guttata in three generations is described. The investigated pedigree consisting of 25 healthy patients and 6 patients with cornea guttata. A few guttata were already present at an early age and very pronounced corneal endothelial guttata appeared in the middle-aged patients. No other ocular pathology was associated with this condition and the endothelial cell counts were not affected by guttata excrescences. The corneal thickness was normal in the affected and non-affected members of the family while bullous keratopathy did not seem to be associated with dominant cornea guttata in this family.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders; D003315:Cornea / Q000473:pathology*; D003316:Corneal Diseases / Q000235:genetics / Q000473:pathology*; D004727:Endothelium / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree