Overview
Retinoblastoma (RB) is a cancer that develops from immature retinal cells (retinoblasts) and is the most common ocular cancer in children. Many patients with RB have an autosomal dominant mutation in the RB1 tumour suppressor gene on chromosome 13.
Epidemiology
- Most cases of retinoblastoma are diagnosed by 3 years of age
Presentation
- Leukocoria – white pupillary reflex:
- The most common clinical presentation, suggests advanced disease
- This may be noticed instead of a red-eye effect when taking a photo with flash
- The presence of leukocoria should raise suspicion of RB
- Strabismus – second most common clinical presentation
- Visual disturbances
Investigations
Overview
Investigations include:
- Dilated fundoscopy under anaesthesia:
- Identifies retinal mass
- Ocular ultrasound and MRI/CT:
- Identifies retinal mass and views in more detail (e.g. extension)
- Bone marrow examination:
- If bone metastases are suspected
- MRI head:
- If brain metastases are suspected
- Lumbar puncture:
- If brain metastases are suspected
Management
Overview
Treatment depends on the extent of the tumour. Options include radiotherapy, chemotherapy, photocoagulation, cryotherapy, or enucleation (removal of the eye from the orbit).
Prognosis
- Survival rates are >90% with enucleation, however, vision on the enucleated side is lost
- Without effective treatment, the prognosis is very poor
