Xeroderma pigmentosum and keratoconus.
Two XP patients are presented. A corneal perforation in the left eye of the first patient necessitated an at-random transplantation à chaud. The graft was remarkably well tolerated, which is possibly explained by UV-light-induced suppression of the cellular immune response in the patient. The right eye of this patient and both eyes of the second patient had a keratoconus. Keratoconus in XP may be the result of disturbances in the cell differentiation and the function of epithelial cells and keratocytes, due to UV-light-induced deficient DNA repair synthesis.
D000328:Adult; D002648:Child; D003316:Corneal Diseases / Q000473:pathology / Q000601:surgery; D016039:Corneal Transplantation; D006801:Humans; D007640:Keratoconus / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D008297:Male; D014983:Xeroderma Pigmentosum / Q000150:complications* / Q000473:pathology