结节性硬化症相关视网膜星形细胞错构瘤自发荧光影像特征分析

目的探讨结节性硬化症(TSC)患者视网膜星形细胞错构瘤(RAH)的自发荧光特征。方法回顾性系列病例研究。对2012年11月至2018年6月间就诊于北京协和医院内科和眼科临床诊断TSC相关RAH的23例(35只眼)患者的眼底自发荧光检查结果进行回顾分析,同时对比观察其彩色眼底照片及频域相干光层析成像术(SD-OCT)结果。根据彩色眼底图像表现对RAH病灶进行分型(1、2、3型),描述不同类型TSC相关RAH的自发荧光特征。采用Welch检验及Fisher精确检验进行统计学分析。结果23例患者中男性8例,女性15例,年龄(28±9)岁(15~55岁)。共检测RAH病灶72个,其中1型RAH 59个,2型RAH 7个,3型RAH 6个。根据自发荧光表现,1型RAH可分为低荧光、混合荧光和等荧光3个亚型,其中低荧光型占绝大多数(69.5%,41/59),而混合荧光型在对应SD-OCT中多伴有外层视网膜受累或光感受器外节信号的中断。低荧光、混合荧光和等荧光亚型的1型RAH的病变厚度分别为(490.2±97.9)、(589.2±221.6)、(463.0±76.2)μm,不同亚型间差异无统计学意义(F=1.426,P=0.283)。低荧光亚型的1型RAH在黄斑旁、视盘旁、鼻下象限、颞下象限、鼻上象限、颞上象限的病灶数量分别为9、4、4、7、4、13个,混合荧光亚型分别为3、0、3、2、3、2个,等荧光亚型分别为3、0、1、1、0、0个,不同亚型间差异无统计学意义(P=0.452)。2型RAH在自发荧光中呈现密集点状或斑块样高荧光,同一病灶内不同钙化点的荧光强弱各有不同。而3型RAH则兼具1、2型特点,以病灶中心点状高荧光,周边类环形低荧光为典型自发荧光表现,但高荧光范围明显小于彩色眼底图像中对应的钙化范围。结论TSC患者不同类型RAH的自发荧光可表现由低荧光到高荧光不等。自发荧光对TSC相关RAH病灶的累及深度及钙化情况具有提示作用,有助于病变的全面评估。

The fundus autofluorescence of retinal astrocytic hamartomas in tuberous sclerosis complex

Objective To investigate the autofluorescence findings of retinal astrocytic hamartoma(RAH)in patients with tuberous sclerosis complex(TSC).Methods It was a retrospective case series study.Twenty-three patients(35 eyes)who were referred to Department of Internal Medicine and Department of Ophthalmology,Peking Union Medical College Hospital between November 2012 and June 2018 with established TSC-associated RAH diagnosis were included.The findings of fundus autofluorescence,fundus photos and spectral-domain optical coherence tomography(SD-OCT)were retrospectively reviewed.RAH lesions were classified into three types based on the morphology shown in fundus photos.The fundus autofluorescence features of TSC-associated RAH were described.The Welch's test and Fisher's exact test were used for statistical analysis.Results The patients were 8 males and 15 females aged(28±9)years old(range,15-55 years).Seventy-two RAH lesions were examined,including 59 type 1 RAHs,7 type 2 RAHs and 6 type 3 RAHs.According to fundus autofluorescence,type 1 RAHs could be further divided into reduced,speckled and background autofluorescence patterns,among which the hypoautofluorescence pattern accounted for the majority(69.5%,41/59),while the speckled pattern was usually accompanied by outer retinal disorganization and discontinuation of photoreceptor outer segment as revealed by SD-OCT.No significant difference was revealed in tumor thickness for reduced,speckled and background autofluorescence patterns of type 1 RAHs[(490.2±97.9)vs.(589.2±221.6)vs.(463.0±76.2)μm respectively,F=1.426,P=0.283].Among type 1 RAHs,the number of reduced autofluorescence pattern lesions found in perifoveal,peripapillary,inferonasal,inferotemporal,superonasal,superotemporal quadrants were 9,4,4,7,4,13 respectively,while that of speckled autofluorescence pattern lesions were 3,0,3,2,3,2 and background autoflurorescence pattern lesions 3,0,1,1,0,0.No significant difference was revealed in location distribution(P=0.452)either.Type 2 RAHs featured numerous hyperautofluorescent spots or plaques,and calcification in type 2 RAHs varied in autofluorescence intensity.Type 3 RAHs,combining the features of type 1 and 2 RAHs,were characterized by central hyperautofluorescent spots and hypoautoflurescent rim,but the area of hyperautofluorescence was smaller than that of calcification as shown in fundus photos.Conclusions In TSC,the fundus autofluorescence of RAHs varies from hypoautofluorescence to hyperautofluorescence patterns according to RAH types.The retinal involvement and calcification degree of TSC-associated RAHs could be reflected on the autofluorescence,which was beneficial to the full assessment.