拟诊视网膜和视网膜色素上皮联合错构瘤的临床特征分析

目的 探讨视网膜和视网膜色素上皮联合错构瘤(CHRRPE)的临床表现及诊断和鉴别诊断要点.方法 回顾性病例系列研究.收集北京协和医院眼科自2001年11月至2008年7月拟诊为CHRRPE患者5例临床资料,分析其临床表现、眼底特征以及荧光素眼底血管造影(FFA)、相干光断层扫描(OCT)和B超扫描结果.结果 5例患者均为男性,年龄6～18岁,平均12岁,均为单眼发病,无合并全身性疾病.就诊原因包括视力下降、视物变形以及家长发现斜视.就诊时视力0.06～0.4.病变部位包括视乳头及邻近视网膜和黄斑部位.眼底表现为病变处轻度隆起,不同程度的色素增生;视网膜血管迂曲以及视网膜前膜形成.FFA动脉期病变部位脉络膜背景低荧光;静脉期可见视网膜血管迂曲,毛细血管扩张膨隆,并出现荧光素渗漏,晚期渗漏增强.OCT表现视网膜层次结构模糊,视网膜内层呈强反射信号的隆起性病变,病变下方的组织呈现弱反射信号.B超扫描表现为轻度隆起的实性病变.结论 CHRRPE易与其他眼底占位性病变相混淆,诊断主要根据眼底表现及FFA、OCT检查,而B超扫描可用于鉴别诊断.

Clinical characteristics of suspected combined hamartoma of the retina and retinal pigment epithelium

Objective To analyze the clinical presentations, and explore the diagnosis, and differential diagnosis of combined hamartomas of the retina and retinal pigment epithelium (CHRRPE). Methods A retrospective review of five patients with suspected CHRRPE presented to Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, from Nov 2001 to July 2008. The clinical presentations, fundus characteristics, fundus fluorescein angiography (FFA), optic coherence tomography (OCT), as well as B ultrasound scan examinations were analyzed. Results The five patients were all male, ranging in age from 6 to 18 years (mean 12 years). The lesion was unilateral ;there were not any associated diseases. Presenting symptoms included painless decrease in vision, metamorphopsia, and discovery of strabismus. Initial visual acuity ranged from 20/333 to 20/50. Locations of the lesion included on optic disk and adjacent retina, and in the macular area. Clinical characteristics were slight elevation on optic disk or in retina, different degree of hyperpigmentation, retinal vascular tortuosity, as well as epiretinal membrane formation. In arterial phase of FFA, there was hypofluorescence of choroid background, retinal vascular was tortuose and telangiectatic, and there was leakage from vessels within the lesion in venous phase and late phase. OCT showed obscuration of the normal retinal layers, elevated lesion with high reflectivity of the inner retina, and hyporeflective shadowing of the underlying tissue. B ultrasound scan showed slightly elevated solid mass involving the disc or adjacent retina in some patients. Conclusions CHRRPE may be confused with other masses of the retina and choroid. Diagnosis of CHRRPE mainly depends on fundus manifestations, FFA and OCT. B ultrasound scan is useful for differential diagnosis.