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  • Retinoblastoma

Retinoblastoma

What is retinoblastoma?

Retinoblastoma grows from immature retinal cells. It is the most common malignant intraocular tumour in children less than five years of age. If not detected early, it is often fatal.

What causes retinoblastoma?

Mutation of the retinoblastoma gene (RB gene which is normally a tumour suppressor gene) can cause tumour cells to grow in the immature retinal tissue and this leads to the development of retinoblastoma.

Is retinoblastoma hereditary?

Nearly half of all retinoblastomas are hereditary, which means there is a positive family history of the affected child’s parents or grandparents having retinoblastoma. The other half of retinoblastomas are sporadic, which means there is no family history and the tumour arises from a new mutation in the retinal cell.  

What are the symptoms and signs of retinoblastoma?

The most common sign of retinoblastoma is a “white pupil”. The second most common sign is strabismus (wandering eye).  In rare cases, the retinoblastoma can present acutely with red, painful eyes due to an advanced tumour invading other structures of the eye.

How is retinoblastoma treated?

Treatment of retinoblastoma is complex and often involves a paediatric ophthalmologist, paediatric oncologist and general paediatrician. Given its rarity, it is best practice for retinoblastoma treatment to be done in centres where such expertise is available. In New Zealand retinoblastoma treatment is done at the Greenlane Clinical Centre in conjunction with the Starship Children’s Hospital Oncology Service.

The treatment modality depends on the stage of the retinoblastoma. If diagnosed early, local treatment of tumour with laser is often effective. Advanced disease may require removal of the tumorous eye and systemic chemotherapy is necessary in many such cases. With early diagnosis the survival rate of retinoblastoma is over 90%.

 

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