Schwab C, Faschinger C, Ehgartner E M, Langmann G, Hanselmayer H
Fortschr Ophthalmol. 1989;86(3):181-4.
Xeroderma pigmentosum is a very rare disease caused by an inherited defect in the DNA repair system. The cells are less able to repair defects caused by UV radiation, which results in early aging of the skin and the development of malignant skin tumors. Robins assumes that the eye is involved in 60% of the cases. In our patient we found a dense opacity of both corneas in addition to the typical lentiginous alteration of the skin. Therefore, a corneal transplantation was carried out on both eyes. The corneal buttons obtained by keratoplasty were examined by light, and transmission electron microscopy. We found massive alterations in the tissues of all corneal layers.
着色性干皮病是一种由DNA修复系统的遗传缺陷引起的非常罕见的疾病。细胞修复紫外线辐射造成的缺陷的能力较弱，这会导致皮肤过早老化和恶性皮肤肿瘤的发生。罗宾斯认为在60%的病例中眼睛会受到影响。在我们的患者中，除了典型的皮肤雀斑样改变外，我们还发现双眼角膜有致密混浊。因此，对双眼进行了角膜移植。通过角膜移植获得的角膜片用光学显微镜和透射电子显微镜进行了检查。我们发现所有角膜层的组织都有大量改变。
