Mohamed Ashik, Peguda Rajini, Ramappa Muralidhar, Ali Mohammad Javed, Chaurasia Sunita
Prof. Brien Holden Eye Research Centre, LV Prasad Eye Institute, Hyderabad, India.
Cornea and Anterior Segment Services, LV Prasad Eye Institute, Hyderabad, India.
Br J Ophthalmol. 2016 Jun;100(6):750-3. doi: 10.1136/bjophthalmol-2015-307079. Epub 2015 Sep 30.
Xeroderma pigmentosum is a condition caused due to a defective DNA repair mechanism when exposed to ultraviolet radiation. Many of the patients with this disorder develop severely oedematous cornea with varying degrees of anterior corneal haze, which necessitates a full-thickness keratoplasty or selective endothelial keratoplasty. Presence of corneal oedema suggests that these patients have a dysfunctional endothelium. The purpose of this study is to evaluate the corneal endothelium in the patients with xeroderma pigmentosum when clinical specular microscopy was feasible.
Thirteen patients with classic skin changes of xeroderma pigmentosum were included in the study conducted during January 2010-December 2012. An age-matched group of 13 volunteers were included as controls who were emmetropes without any history of ocular or systemic illness. Corneal endothelium was assessed using specular microscopy from the central clear area of cornea.
The mean age of the patients with xeroderma pigmentosum was 16.6±7.2 years and that of the controls was 17.4±6.9 years (p=0.78). The number of analysed cells and endothelial cell density were significantly higher in controls (p<0.001), whereas the average cell area, coefficient of variation of cell area and maximum cell area were significantly higher in xeroderma pigmentosum (p≤0.007).
The specular microscopic findings in patients with xeroderma pigmentosum are suggestive of an accelerated endothelial cell loss. It is pertinent that the treating physicians must be involved in emphasising proper ocular protection from ultraviolet radiation to prevent avoidable blindness from xeroderma pigmentosum.
着色性干皮病是一种因暴露于紫外线辐射时DNA修复机制缺陷而导致的疾病。许多患有这种疾病的患者会出现严重水肿的角膜，并伴有不同程度的角膜前层混浊，这就需要进行全层角膜移植术或选择性内皮角膜移植术。角膜水肿的存在表明这些患者的内皮功能失调。本研究的目的是在临床镜面显微镜检查可行时，评估着色性干皮病患者的角膜内皮情况。
2010年1月至2012年12月期间进行的这项研究纳入了13例有着色性干皮病典型皮肤改变的患者。将13名年龄匹配的志愿者纳入对照组，他们均为正视眼，无任何眼部或全身疾病史。使用镜面显微镜从角膜中央透明区域评估角膜内皮。
着色性干皮病患者的平均年龄为16.6±7.2岁，对照组为17.4±6.9岁（p=0.78）。对照组中分析的细胞数量和内皮细胞密度显著更高（p<0.001），而着色性干皮病患者的平均细胞面积、细胞面积变异系数和最大细胞面积显著更高（p≤0.007）。
着色性干皮病患者的镜面显微镜检查结果提示内皮细胞丢失加速。治疗医生必须强调对紫外线辐射进行适当的眼部防护，以预防着色性干皮病导致的可避免失明，这一点至关重要。
