Zhang C X, Zhang Z Q, Xu K F, Long Q, Yang Z K, Dai R P, Du H, Li D H
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Ocular Fundus Diseases, Beijing 100730, China.
Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Rare Diseases Research Center, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Yan Ke Za Zhi. 2020 Mar 11;56(3):211-216. doi: 10.3760/cma.j.issn.0412-4081.2020.03.009.
To investigate the autofluorescence findings of retinal astrocytic hamartoma (RAH) in patients with tuberous sclerosis complex (TSC). 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. 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) (589.2±221.6) (463.0±76.2) μm respectively, 1.426, 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 (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. 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. -.
探讨结节性硬化症(TSC)患者视网膜星形细胞错构瘤(RAH)的自发荧光表现。这是一项回顾性病例系列研究。纳入2012年11月至2018年6月期间在北京协和医院内科和眼科就诊且已确诊为TSC相关RAH的23例患者(35只眼)。对眼底自发荧光、眼底照片和光谱域光学相干断层扫描(SD-OCT)的结果进行回顾性分析。根据眼底照片所示形态,将RAH病变分为三种类型。描述了TSC相关RAH的眼底自发荧光特征。采用韦尔奇检验和费舍尔精确检验进行统计分析。患者年龄(28±9)岁(范围15 - 55岁),男性8例,女性15例。共检查72个RAH病变,其中1型RAH 59个,2型RAH 7个,3型RAH 6个。根据眼底自发荧光,1型RAH可进一步分为减弱型、斑点型和背景自发荧光型,其中低自发荧光型占多数(69.5%,41/59),而斑点型通常伴有视网膜外层结构紊乱和光感受器外段中断,这在SD-OCT检查中有所显示。1型RAH的减弱型、斑点型和背景自发荧光型的肿瘤厚度差异无统计学意义[分别为(490.2±97.9)、(589.2±221.6)、(463.0±76.2)μm,F = 1.426,P = 0.283]。在1型RAH中,中心凹周围、视乳头周围、鼻下、颞下、鼻上、颞上象限发现的减弱自发荧光型病变数量分别为9个、4个、4个、7个、4个、13个,斑点自发荧光型病变数量分别为3个、0个、3个、2个、3个、2个,背景自发荧光型病变数量分别为3个、0个、1个、1个、0个、0个。位置分布差异也无统计学意义(P = 0.452)。2型RAH有许多高自发荧光斑点或斑块,2型RAH中的钙化在自发荧光强度上有所不同。3型RAH结合了1型和2型RAH的特征,其特点是中心高自发荧光斑点和低自发荧光边缘,但眼底照片显示高自发荧光区域小于钙化区域。在TSC中,RAH的眼底自发荧光根据RAH类型从低自发荧光到高自发荧光模式各不相同。TSC相关RAH的视网膜受累情况和钙化程度可在自发荧光上得到反映,这有助于全面评估。