Arora Supriya, Bhushan Gauri, Thirumalai Sriram, Ghosh Basudeb
Vitreo Retina services, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.
Retin Cases Brief Rep. 2016 Spring;10(2):121-6. doi: 10.1097/ICB.0000000000000155.
To report a case of exudative retinal detachment as the presenting feature of tuberous sclerosis complex.
A 14-year-old girl presented with loss of vision in the right eye for 1 month. Visual acuity was no perception of light in the right eye and 20/20 in the left eye. Clinical examination, fundus fluorescein angiography, spectral domain optical coherence tomography, and ultrasound B-scan was performed along with complete systemic evaluation.
On examination, the right eye had an exudative retinal detachment and the left eye had multiple lesions suggestive of retinal astrocytic hamartomas. Ultrasonography of the right eye revealed a total retinal detachment with subretinal exudates and an acoustically solid mass lesion in the inferonasal quadrant, whereas that of the left eye detected a small mass in inferonasal quadrant. Fundus fluorescein angiography of the left eye revealed staining in the late phase in the lesions. Spectral domain optical coherence tomography taken through the lesion demonstrated an elevated lesion with high reflectivity arising from inner retinal layers and causing backshadowing. On systemic examination, she had multiple skin colored bumps on cheeks and nose and multiple hypomelanotic macules on lower legs. Contrast-enhanced magnetic resonance imaging brain revealed features suggestive of multiple cortical tubers. Contrast-enhanced magnetic resonance imaging orbits showed a T2-hypointense nodule in the right globe medially with intense postcontrast enhancement, and contrast-enhanced magnetic resonance imaging abdomen detected multiple renal cysts suggestive of angiomyolipoma.
Retinal astrocytic hamartomas in association with tuberous sclerosis complex is considered to be a relatively stationary lesion that has little potential for aggressive behavior. In rare instances, however, a retinal astrocytic hamartomas can show progressive growth and cause exudative retinal detachment.
报告一例以渗出性视网膜脱离为结节性硬化症复合体首发特征的病例。
一名14岁女孩右眼视力丧失1个月。右眼无光感，左眼视力20/20。进行了临床检查、眼底荧光血管造影、频域光学相干断层扫描和B超检查，并进行了全面的全身评估。
检查发现，右眼有渗出性视网膜脱离，左眼有多个提示视网膜星形细胞瘤的病变。右眼超声检查显示视网膜完全脱离，视网膜下有渗出液，鼻下象限有一个声学上实性的肿块病变，而左眼超声检查在鼻下象限发现一个小肿块。左眼眼底荧光血管造影显示病变在晚期有染色。通过病变部位进行的频域光学相干断层扫描显示，病变从视网膜内层隆起，具有高反射率，并产生后方阴影。全身检查发现，她脸颊和鼻子上有多个肤色丘疹，小腿上有多个色素减退斑。脑部对比增强磁共振成像显示有多个皮质结节的特征。眼眶对比增强磁共振成像显示右眼球内侧有一个T2低信号结节，增强后强化明显，腹部对比增强磁共振成像检测到多个提示血管平滑肌脂肪瘤的肾囊肿。
与结节性硬化症复合体相关的视网膜星形细胞瘤被认为是一种相对静止的病变，侵袭性较小。然而，在罕见情况下，视网膜星形细胞瘤可显示进行性生长并导致渗出性视网膜脱离。
