Jalali S, Boghani S, Vemuganti G K, Ratnakar K S, Rao G N
Sight-Savers' Corneal Training Centre, L.V. Prasad Eye Institute, Hyderabad, India.
Cornea. 1994 Nov;13(6):527-33.
Xeroderma pigmentosum is an uncommon inherited disorder characterized by hypersensitivity to ultraviolet radiation, with defective repair of DNA damage caused by short-wavelength radiation. Corneal complications of this disorder may require penetrating keratoplasty for visual rehabilitation. Surgery is rarely undertaken in these eyes due to multiple associated problems involving the ocular surface and the lids. We report three cases of successful penetrating keratoplasty in xeroderma pigmentosum and review nine cases reported earlier. Successful grafts were achieved in all 12 eyes initially. Persistent superficial punctate keratopathy was observed in one eye and graft rejection episodes in five eyes. However, graft failure occurred due to an untreated rejection episode in only one eye. Another eye was treated by exenteration for recurrent ocular malignancies. This report highlights the encouraging results of penetrating keratoplasty in carefully selected patients of xeroderma pigmentosum with corneal pathology.
着色性干皮病是一种罕见的遗传性疾病，其特征为对紫外线辐射过敏，且短波长辐射所致的DNA损伤修复存在缺陷。该疾病的角膜并发症可能需要进行穿透性角膜移植术以恢复视力。由于涉及眼表和眼睑的多种相关问题，这些眼睛很少进行手术。我们报告了3例着色性干皮病患者成功进行穿透性角膜移植术的病例，并回顾了此前报告的9例病例。最初，所有12只眼睛的移植均成功。1只眼睛观察到持续性浅层点状角膜病变，5只眼睛发生移植排斥反应。然而，仅1只眼睛因未治疗的排斥反应导致移植失败。另1只眼睛因复发性眼部恶性肿瘤而接受了眼球摘除术。本报告强调了在精心挑选的患有角膜病变的着色性干皮病患者中进行穿透性角膜移植术所取得的令人鼓舞的结果。
