双眼虹膜角膜内皮综合征病例的误诊分析

Analysis of the misdiagnosis of bilateral iridocorneal endothelial syndrome

目的分析双眼虹膜角膜内皮综合征病例误诊原因。方法以回顾性病例系列研究分析北京同仁医院眼科中心自1998年1月至2011年12月期间接诊的误诊双眼双眼虹膜角膜内皮（ICE）综合征病例，同时检索1982—2011年国内公开报道的双眼ICE综合征的病例。对其病史、主要症状以及角膜、虹膜、房角等资料加以分析，并将ICE综合征与易于之混淆的Axenfeld．Rieger综合征、后部多形性角膜营养不良及陈旧性虹膜炎的临床表现及体征进行对比，分析导致误诊双眼ICE综合征的原因。结果我院曾经接诊诊断双眼ICE综合征病例共10例，20只眼，最终确诊Axenfeld．Rieger综合征5例，后部多形性角膜营养不良2例，陈旧性虹膜炎3例。检索的国内文献中双眼ICE综合征报道共9篇，记录患者18例。对其资料分析显示：10例患者不能排除Axenfeld．Rieger综合征，2例患者不能排除后部多形性角膜营养不良，6例患者病例资料缺失，不能进一步判断。结论双眼发病ICE综合征病例多为误诊，我们检索的国内病例报告中，尚难确定存在双眼ICE综合征病例。角膜内皮细胞特征性改变，特别是角膜内皮镜检查发现ICE细胞，是ICE综合征确诊依据，也是鉴别Axenfeld-Rieger综合征、后部多形性角膜营养不良及陈旧性虹膜炎等疾病的重要依据。

Objective To analyze the misdiagnosis of bilateral iridocorneal endothelial （ICE） syndrome and the possible reasons. Methods The patients seen from January 1998 to December 2011 at Beijing Tongren Hospital, misdiagnosed as bilateral ICE syndrome, were analyzed retrospectively. And a literature search was performed with a Wanfang computerized database website for the case studies of bilateral ICE syndrome. The history, clinical profiles and the findings of corneal, iris and anterior chamber examinations were analyzed. The clinical manifestations of patients with ICE syndrome were also compared with those of Axenfeld-Rieger syndrome, posterior polymorphous dystrophy （PPMD） and chronic iritis for differential diagnosis. Results Ten patients were diagnosed as bilateral ICE syndrome. However, among them, 5 patients were diagnosed as Axenfeld-Rieger syndrome, 2 patients as PPMD, 3 as chronic iritis and none as bilateral ICE syndrome. There were 9 Chinese reports of bilateral ICE syndrome in a total of 18 patients. Analysis showed that Axenfeld-Rieger syndrome needed to be ruled out in 10 patients, PPMD could not be ruled out in 2 patients while diagnosis could not be made in 6 patients for a lack of proof. Conclusion Despite the reporting of bilateral cases, ICE syndrome is usually unilateral. With specific micrographic features for a definite diagnosis of ICE syndrome, ICE cells may become an important feature differentiating from Axenfeld-Rieger syndrome, PPMD and chronic iritis.