目的:报告1例表现为双眼视力模糊的48岁女子患弹性假黄瘤病(pseudoxanthoma elasticum,PXE)的病例。方法:病例报告。结果:患者,女,48岁,双眼视力模糊,右眼视物变形。10a前因左眼患血管样条纹症接受激光手术,残余视力较差。右眼视力为20/60,左眼6英尺数指。眼底检查可见视网膜下出血和右侧黄斑增厚及左侧椭圆形黄斑瘢痕伴病灶萎缩性色素上皮病变。双眼有血管样条纹和橙色视网膜色素图案。外部检查发现颈部侧面和后面有几处黄色皮肤丘疹和斑块,以及明显的颏皱褶。皮肤切片病理检查证实了PXE的诊断,显示有网状真皮层深层的钙沉积和成碎片的成丛的弹性纤维。患者对玻璃体内注射贝伐单抗反应良好,右眼视力提高到20/25。强调预防保健的重要性,建议患者求助于心脏病学、胃肠病学和人类遗传学咨询服务。结论:PXE是一个累及多系统的疾病,它影响着皮肤、眼和心血管系统。在固有的皮肤变化和明显的颏皱褶的存在下,血管样条纹症和脉络膜新生血管的眼科发现能提高PXE的评估。

AIM:To report a case of pseudoxanthoma elasticum(PXE) in a 48-year-old woman that presented with bilateral blurry vision.METHODS:A case report.RESULTS:A 48-year-old woman presented with bilateral blurry vision and right eye metamorphopsia.The patient had a history of angioid streaks in the left eye ten years ago for which she had received laser surgery and had poor residual vision.Visual acuity was 20/60 in the right eye and count fingers at 6 feet in the left.Fundus examination showed subretinal hemorrhage and macular thickening on the right and a disciform macular scar with focal atrophic pigment epithelial lesions on the left.Both eyes had angioid streaks and peau d’orange pigmentary pattern of the retina.External examination showed several,yellow skin papules and plaques on the lateral and posterior neck,as well as prominent mental creases.Pathologic examination of skin biopsy confirmed the diagnosis of PXE,showing calcium deposition and fragmented,clumped elastic fibers in the deep reticular dermis.She responded well to intravitreal bevacizumab injections and visual acuity improved to 20/25 OD.Preventative care was emphasized and the patient was referred to cardiology,gastroenterology and human genetics for counseling.CONCLUSION:PXE is a multisystem disorder affecting the dermatologic,ocular,and cardiovascular systems.Ophthalmic findings of angioid streaks and choroidal neovascularization in the presence of stereotypical skin changes and prominent mental creases should prompt evaluation for PXE.

R773.4