• Aggressive malignant neoplasm
  • Arises from immature retina
  • Most common intraocular tumor of childhood
  • Manifests by 5 years of age
  • Damage to RB1 tumor suppressor gene on chromosome 13
  • Multifocal or bilateral involvement in inherited disease
  • Trilateral retinoblastoma: bilateral lesion accompanied by sellar/pineal lesion
  • Inherited lesions associated with osteosarcomas, melanomas and carcinomas
  • Delayed diagnosis, extra ocular extension and distant metastasis (lung, bone) are poor prognosticators
  • Leucocoria – loss of normal red reflex 
  • Pain
  • Visual disturbance
  • Heterochromia of iris
  • Glaucoma
  • Retinal detachment
  • Some tumors elicit inflammatory response – orbital cellulitis
  • Nodular lesion arising from retina 
  • CT imaging of choice
  • Hyper attenuating mass in posterior globe 
  • Calcification in 95% cases
  • MRI – delineate intracranial spread. Mass follows grey matter signals with post contrast enhancement
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de Graaf, Pim, et al. “Retinoblastoma: MR imaging parameters in detection of tumor extent.” Radiology 235.1 (2005): 197-207

Jansen, Robin W., et al. “MR imaging features of retinoblastoma: Association with gene expression profiles.” Radiology 288.2 (2018): 506-515.

Dimaras, Helen, et al. “Retinoblastoma.” Nature reviews Disease primers 1.1 (2015): 1-23.