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Retinal Astrocytic Hamartoma Complicated with Vitreous Hemorrhage in Tuberous Sclerosis

結節性硬化症合併玻璃體出血及視網膜星狀細胞缺陷瘤

摘要


目的:報告一位結節性硬化症病患,合併出現視網膜星狀細胞缺陷瘤及玻璃體出血。 方法:病例報告 結果:一位31歲女性患有結節性硬化症。因右眼視力模糊就診。理學檢查發現面部皮脂腺瘤、鯊魚皮狀斑及皮膚脫色素斑。最佳矯正視力為右眼3/60,左眼6/6,眼底鏡檢查發現右眼玻璃體出血、視網膜腫瘤及後玻璃體剝離。螢光血管攝影發現右眼晚期大量螢光劑滯留現象。腦部磁振造影發現右眼視網膜一5毫米大小病灶。一個月後,右眼玻璃體出血減少,眼底檢查發現一白色,突起之視網膜腫瘤,侵犯下方視神經盤。 結論:過去台灣曾報告過20例結節性硬化症患者合併視網膜星狀細胞缺陷瘤。然而,這些病例並未合併玻璃體出血且視力多未受影響。我們報告一結節性硬化症病患,合併出現視網膜星狀細胞缺陷瘤及玻璃體出血。腫瘤內的小血管破裂及急性後玻璃體剝離可能是造成玻璃體出血的原因。

關鍵字

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並列摘要


Purpose: To report a case of tuberous sclerosis that had astrocytic hamartoma complicated by vitreous hemorrhage. Methods: An observational case report Result: A 31-year-old female with tuberous sclerosis presented with blurred vision of the right eye. Physical examinations revealed facial adenoma sebaceum, shagreen patches and ash leaf spots on the lower limbs. The best corrected visual acuity was 3/60 in the right eye and 6/6 in the left eye. Ophthalmoscopy examination revealed vitreous hemorrhage and elevated peripapillary lesion in the right eye. Incomplete posterior vitreous detachment was also noted. The MRI scan revealed a discoid lesion, 5mm in diameter, elevated from the retina of the right eye. One month later, the vitreous hemorrhage decreased, and ophthalmoscopy examination revealed a white, elevated, retinal tumor involving the inferior optic disc. Conclusion: Retinal astrocytic hamartoma is a common ocular manifestation of tuberous sclerosis. There had been 20 cases of tuberous sclerosis with retinal astrocytic hamartoma reported in Taiwan but none had vitreous hemorrhage. Small vascular channels in the tumor and acute posterior vitreous detachment may account for the severe, yet transient vitreous hemorrhage in our patient. In young patients with vitreous hemorrhage and specific cutaneous lesions, tuberous sclerosis with retinal astrocytic hamartoma may be considered.

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