目的：分析Stargardt病中眼底自发荧光(FAF)的临床特征，应用频域光学相干断层扫描(Spectralis OCT)观察相应的视网膜微结构改变，进一步探讨两者联合应用在Stargardt病诊断中的价值。

方法：非干预性、观察性研究。应用激光共焦扫描检眼镜(德国Heidelberg公司)对Stargardt病患者9例18眼进行蓝光自发荧光(BL-FAF，激发光488nm，滤光片>500nm)、Spectralis OCT检查、眼底照相、mfERG检查及荧光素眼底血管造影(fundus fluorescein angiography ，FFA)检查，其中7例同时接受了吲哚青绿血管造影(indocyanine green angiography，ICGA)检查； 分析Stargardt病FAF分布特征及Spectralis OCT所示视网膜微结构的对应改变。

结果：黄斑部椭圆形病变区域呈现BL-FAF均为低荧光，活动期病例可见边缘厚薄不一的强荧光。OCT显示病变区视网膜色素上皮(retinal pigment epithelial ，RPE)和光感受器(photoreceptors，PR)萎缩，神经上皮层菲薄。 FFA早期可出现散在的点状透见荧光，晚期黄斑部出现与萎缩灶大小相符的牛眼状透见荧光； 病变晚期 ICGA表现为脉络膜毛细血管萎缩，个别病例可见新生血管。

结论：眼底自发荧光联合Spectralis OCT及mf-ERG是诊断Stargardt病十分有用的非侵入性检查手段，其特征性改变提示病变存在RPE及PR 的共同退化，同时也揭示脂褐素这种荧光性物质不同的病理生理变化。

AIM: To analyze clinical features of Stargardt disease by fundus autofluorescence(FAF)and observe microstructural changes of the retina by frequency-domain optical coherence tomography(Spectralis OCT)to explore the clinical value of combined FAF and OCT in diagnosis of Stargardt's disease.

METHODS:Non-interventional observation study. Confocal scanning laser ophthalmoscope(Heidelberg, Germany Company)was applied on 9 patients(18 eyes)with Stargardt disease for blue autofluorescence(BL-FAF, excitation 488nm, filter >500nm), Spectralis OCT examination, fundus photography, mfERG examination and fundus fluorescein angiography(FFA)examination. Seven cases also received indocyanine green angiography(ICGA)inspection. The study analyzed distribution characteristics of Stargardt's disease under FAF examination and microstructural changes of the retina under Spectralis OCT.

RESULTS:The BL-FAF of the oval macular lesions presented low fluorescence and visible edge demonstrated varying thickness and strong fluorescence. OCT showed retinal pigment epithelial lesions(RPE), photoreceptors(PR)atrophy and neurosensory meager. Under FFA examination, scattered point-like fluorescence could be seen in the early stage, and macular atrophy tumor size appears consistent with the bull's-eye fluorescence could be seen in the late stage. The disease demonstrated choriocapillaris atrophy in the late stage under ICGA examination. New vessels could be seen in rare cases.

CONCLUSION: FAF with Spectralis OCT and mf-ERG is an effective non-invasive examination methods for diagnosis of Stargardt disease. Changes of its clinical characteristics might suggest degeneration of both RPE and PR and various pathological and physiological changes of lipofuscin.

2009年福建省卫生厅青年科研项目(No.2009-02-92)