Best卵黄样黄斑营养不良的临床特点分析

目的探讨Best卵黄样黄斑营养不良（BVMD）患者的临床特征。方法回顾性分析2006年1月至12月共10例（20只眼）BVMD患者的临床资料,包括眼底检查、荧光素眼底血管造影（FFA）及相干光断层扫描（OCT）图像等资料。结果10例（20只眼）中,3例（3只眼）病变为Ⅱ期,发病年龄9—18岁,最佳矫正视力（BCVA）为0．5～0．8;FFA检测可见病灶区荧光遮蔽;OCT检测显示视网膜色素上皮（RPE）-脉络膜毛细血管复合体增厚、隆起、信号增强。2例（2只眼）为Ⅱa期,发病年龄9—18岁,BCVA为0．5～0．6;FFA检测可见不规则强和弱荧光病灶;OCT检测显示RPE-脉络膜毛细血管复合体增厚、隆起、信号增强,堆成圆锥状,其下物质蓄积伴浆液性视网膜脱离（RD）,神经感觉层被抬起。2例（4只眼）为Ⅲ期,发病年龄11-29岁,BCVA为0．4～1．0;FFA检测显示液平面下方荧光遮蔽,上方因RPE萎缩可见窗样缺损;OCT检测显示为上方RPE正常而伴浆液性RD,下方RPE-脉络膜毛细血管复合体增宽、信号增强,神经感觉层被抬起。6例（11只眼）为Ⅳ期,发病年龄9—44岁,BCVA为0．05～0．7;FFA检测可见典型的荧光渗漏（Ⅳc期）或透见荧光（Ⅳa期）或纤维团块荧光点染（Ⅳb期）;OCT检测显示RPE连续性中断,可伴黄斑水肿（Ⅳc期）,RPE-脉络膜毛细血管复合体萎缩变薄（Ⅳa期）或增宽,信号增强（Ⅳb期）。结论BVMD的FFA和OCT检测结果支持卵黄样物质积聚于RPE水平或其下的假说,BVMD的典型图像特征对评价患者治疗和预后有重要意义。

Clinical features of Best vitelliform macular dystrophy

OBJECTIVE: To investigate the clinical features of Best vitelliform macular dystrophy (BVMD) in Chinese patients. METHODS: Ten consecutive patients (20 eyes) were diagnosed as BVMD by the fundus photography, EOG, fluorescein angiography (FFA) and optical coherence tomography (OCT). Their clinical data were analyzed retrospectively. RESULTS: Of the twenty eyes from ten patients, three eyes from three patients (age range 9-18 years, mean 12.33+/-4.93 years) in Stage II, two eyes from two patients (age range 9-18, mean 13.50+/-6.36 years) in Stage IIa, four eyes from two patients (age range 11-29 years, mean 20.00+/-10.39 years) in Stage III and eleven from six patients (age range 9-44 years, mean 27.09+/-14.02 years) in Stage IV were found at their first presentation to our hospital. OCT scan showed the broadening of the outer-retina-choroid-complex signal with the retinal elevation in Stage II. The moderately reflective material which represents the vitelliform material may accumulate forming a conical mound that would elevate the retinal sensory layer in Stage IIa. In 'pseudohypopon' or atrophy phase there may be a large volume of serous retinal detachment. If a fibrous macular or foveal atrophy was seen in the fundus photograph, the thinning of the outer-retina-choroid-complex signal with serous retinal detachment may be shown by OCT. CONCLUSIONS: The present observation is a first study on the clinical findings of Chinese BVMD patients. It supports the hypothesis that the yellowish material is located under the RPE. Long term evaluation with more patients should be done to acknowledge more characteristics of BVMD in Chinese patients.