Ocular Oncology & Pediatric Ophthalmology Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, , New Delhi, India.
Br J Ophthalmol. 2014 Apr;98(4):488-93. doi: 10.1136/bjophthalmol-2013-304321. Epub 2014 Jan 23.
To determine the rate of clinical misdiagnosis in paediatric patients who were enucleated for retinoblastoma and report the clinicopathological features of cases that were misdiagnosed.
Retrospective review of medical records of children who underwent a primary enucleation for advanced retinoblastoma was done. In all cases, the diagnosis of retinoblastoma was made on the basis of clinical presentation and imaging modalities. Clinicopathological features of eyes with discordant clinical and histopathological diagnosis were studied in detail.
Of 280 eyes (280 patients) that were enucleated over a 4-year period, histopathological diagnosis was consistent with retinoblastoma in 276 (98.6%) eyes. In 4 (1.4%) eyes, clinical and histopathological diagnoses were discordant. Histopathological features in misdiagnosed cases included one case each of granulomatous endophthalmitis, retinal astrocytoma, Coats' disease and persistent hyperplastic primary vitreous.
To the best of our knowledge, this is the first study to examine the rate of clinical misdiagnosis of retinoblastoma from South Asia. Despite the use of modern preoperative imaging modalities including MRI scans, benign lesions in end-stage conditions simulated retinoblastoma, resulting in potentially avoidable enucleation.
确定因视网膜母细胞瘤而接受眼球摘除术的儿科患者的临床误诊率，并报告误诊病例的临床病理特征。
对 280 例（280 名患者）因晚期视网膜母细胞瘤行初次眼球摘除术的儿童进行了病历回顾性分析。所有病例均根据临床表现和影像学检查做出视网膜母细胞瘤的诊断。详细研究了临床和组织病理学诊断不一致的眼的临床病理特征。
在 4 年期间进行眼球摘除的 280 只眼（280 例患者）中，276 只眼（98.6%）的组织病理学诊断与视网膜母细胞瘤相符。在 4 只眼（1.4%）中，临床和组织病理学诊断不一致。误诊病例的组织病理学特征包括 1 例肉芽肿性眼内炎、1 例视网膜星形细胞瘤、1 例 Coats 病和 1 例永存增生性原始玻璃体。
据我们所知，这是首次从南亚地区研究视网膜母细胞瘤的临床误诊率。尽管使用了现代术前影像学检查，包括 MRI 扫描，但在晚期情况下良性病变模拟视网膜母细胞瘤，导致了本可避免的眼球摘除。
