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Clinical misdiagnosis of retinoblastoma in Indian children


Aim 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.

Methods 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.

Results 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.

Conclusions 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.

  • Child health (paediatrics)
  • Imaging
  • Neoplasia
  • Pathology

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