Kitazawa Koji, Nagata Kenji, Yamanaka Yukito, Kuwahara Yasumichi, Iehara Tomoko, Kinoshita Shigeru, Sotozono Chie
Departments of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan; Departments of Frontier Medical Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan; Departments of Baptist Yamasaki Eye Clinic, Kyoto, Japan.
Departments of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Case Rep Ophthalmol. 2015 Dec 10;6(3):443-7. doi: 10.1159/000442744. eCollection 2015 Sep-Dec.
Retinoblastomas account for 4% of malignancies in children, 1-2% of which are diffuse infiltrating retinoblastomas. Diffuse anterior retinoblastoma is rare and does not involve the retina. Here, we report on a diffuse anterior retinoblastoma with large sarcoidosis-like nodules on the iris that were responsive to anti-inflammatory therapy.
We present a 6-year-old girl who had anterior uveitis with white nodules on the iris and posterior surface of the cornea in her right eye. The nodules initially responded well to anti-inflammatory treatment. However, anterior segment optical coherence tomography (AS-OCT) showed that the nodules gradually grew, shrinking the iris. We then collected the aqueous humor for diagnosis. A biopsy revealed clusters of small cells with a high nuclear-to-cytoplasm ratio with partial rosette formation. Therefore, we diagnosed diffuse anterior retinoblastoma without retinal involvement and performed enucleation of the right eye. The histopathology demonstrated undifferentiated cells similar to those seen on the biopsy, and tumor cells invaded the iris stroma, posterior surface of the cornea, ciliary body, and sclera. After the enucleation, she underwent chemotherapy and remains alive.
A differential diagnosis of retinoblastoma should be considered when white nodules refractory to anti-inflammatory therapy occur in the eye, even in the absence of obvious retinal masses. AS-OCT findings are useful in assessing retinoblastoma.
视网膜母细胞瘤占儿童恶性肿瘤的4%，其中1%-2%为弥漫性浸润性视网膜母细胞瘤。弥漫性前部视网膜母细胞瘤罕见，不累及视网膜。在此，我们报告一例弥漫性前部视网膜母细胞瘤，其虹膜上有类似结节病的大结节，对抗炎治疗有反应。
我们介绍一名6岁女孩，其右眼患有前葡萄膜炎，虹膜和角膜后表面有白色结节。这些结节最初对抗炎治疗反应良好。然而，眼前节光学相干断层扫描（AS-OCT）显示结节逐渐增大，虹膜萎缩。然后我们收集房水进行诊断。活检显示有核质比高的小细胞簇，并伴有部分玫瑰花结形成。因此，我们诊断为无视网膜受累的弥漫性前部视网膜母细胞瘤，并对右眼进行了眼球摘除术。组织病理学显示与活检所见相似的未分化细胞，肿瘤细胞侵犯虹膜基质、角膜后表面、睫状体和巩膜。眼球摘除术后，她接受了化疗，目前仍然存活。
即使没有明显的视网膜肿块，当眼部出现对抗炎治疗无效的白色结节时，应考虑视网膜母细胞瘤的鉴别诊断。AS-OCT检查结果有助于评估视网膜母细胞瘤。
