Shields Jerry A, Eagle Ralph C, Shields Carol L, Marr Brian P
Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Trans Am Ophthalmol Soc. 2004;102:139-47; discussion 147-8.
To report the clinical and histopathologic findings of retinal astrocytic tumors that showed progressive growth in four patients with tuberous sclerosis complex (TSC).
Four young children each developed an enlarging retinal neoplasm that eventually necessitated enucleation of the affected eye. The systemic findings, clinical course, and histopathologic findings were reviewed.
Each patient had a progressively enlarging retinal mass associated with a total exudative retinal detachment and neovascular glaucoma. Enucleation was necessary in each case because the affected eye became blind and painful. The mean patient age at enucleation was 7 years, and the median age was 3 years. At the time of enucleation the tumors ranged from 10 to 20 mm in basal diameter and from 10 to 25 mm in thickness. Histopathologic studies of each eye revealed a giant cell astrocytoma that had produced a total exudative retinal detachment. The tumor cells showed positive immunoreactivity to neuron-specific enolase and glial fibrillary acidic protein. The retinal neoplasms in these cases were identical histopathologically to the subependymal giant cell astrocytoma that typifies TSC in the brain. One tumor filled the entire eye and perforated the globe. Although the lesions simulated retinoblastoma clinically, each patient had ocular and systemic findings of TSC, supporting the diagnosis of astrocytic hamartoma.
Although retinal astrocytic lesions of TSC generally are stationary, they can sometimes grow relentlessly and cause severe ocular complications. Patients with retinal astrocytic hamartomas should have serial ophthalmic evaluations because of this possibility.
报告4例结节性硬化症（TSC）患者视网膜星形细胞瘤呈进行性生长的临床和组织病理学表现。
4例幼儿均出现视网膜肿瘤增大，最终均需摘除患眼。回顾全身表现、临床病程和组织病理学表现。
每位患者均有逐渐增大的视网膜肿物，伴有完全性渗出性视网膜脱离和新生血管性青光眼。由于患眼失明且疼痛，每例均有必要进行眼球摘除。摘除眼球时患者的平均年龄为7岁，中位年龄为3岁。摘除眼球时，肿瘤基底直径为10至20毫米，厚度为10至25毫米。每只眼的组织病理学研究显示为巨大细胞星形细胞瘤，已导致完全性渗出性视网膜脱离。肿瘤细胞对神经元特异性烯醇化酶和胶质纤维酸性蛋白呈阳性免疫反应。这些病例中的视网膜肿瘤在组织病理学上与典型的脑内TSC室管膜下巨细胞星形细胞瘤相同。一个肿瘤充满整个眼球并穿透眼球壁。尽管这些病变在临床上类似视网膜母细胞瘤，但每位患者均有TSC的眼部和全身表现，支持星形细胞错构瘤的诊断。
尽管TSC的视网膜星形细胞病变通常静止，但有时会持续生长并导致严重的眼部并发症。鉴于这种可能性，患有视网膜星形细胞错构瘤的患者应进行系列眼科评估。
