- 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
Clinical
- Leucocoria – loss of normal red reflex
- Pain
- Visual disturbance
- Heterochromia of iris
- Glaucoma
- Retinal detachment
- Some tumors elicit inflammatory response – orbital cellulitis
Imaging
- 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
Read more
Dimaras, Helen, et al. “Retinoblastoma.” Nature reviews Disease primers 1.1 (2015): 1-23.