Retinoblastoma is a rare type of cancer that results in one or more tumors in the retina. This is a layer of light sensitive tissue that lines the back of the eye. It changes visual images into nerve impulses in the brain that allow us to see.
As with most cancers, early diagnosis and treatment leads to better outcomes.
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Immature cells called retinoblasts form during the early stages of fetal development. These cells go on to become retinal cells. In retinoblastoma, some of these cells divide without control or order. If cells keep dividing when new cells are not needed, then a mass of tissue called a tumor forms.
Retinoblastoma is caused by a change in the retinoblastoma gene.
Retinoblastoma is more common in children under 5 years of age. It is also more common in children who have other family members who have had it.
Retinoblastoma usually forms only in one eye, but both eyes may have tumors. Symptoms are usually noticed by the parent or caregiver and may include:
- A glazed look
- A pupil that looks white instead of red when a light or camera flash is directed at it
- Eyes that cross or unusual eye movements
- Vision problems
- Eye swelling or redness
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The doctor will ask about the child's symptoms, past health, and family history. A physical exam will be done. It will focus on the eye. This is enough to suspect the diagnosis.
A complete eye exam will need to be done by a specialist. The tests from this exam can confirm the diagnosis.
Pictures of the eye will be taken. This can be done with:
- MRI scan
Test results will be used for staging. This can tell how far and fast the cancer has spread.
Treatment depends on the stage of the cancer. The goal of treatment is to cure the cancer and preserve sight. A team of specialists will be needed.
One or more of the following treatments may be used:
- Cryotherapy—to freeze and destroy small tumors
- Thermotherapy—to use heat to kill cancer cells
- Laser therapy—to destroy a small tumor
- Radiation—to kill or shrink cancer cells
- Chemotherapy—to kill cancer cells
If the tumor is large, then surgery may need to be done to remove the eye and part of the optic nerve that carries messages from the retina to the brain. An artificial eye can be put in place.
There are no current guidelines to prevent retinoblastoma.
- American Academy of Pediatrics policy statement on screening children at risk for retinoblastoma can be found in Pediatrics 2018 Feb;141(2):e20173631.
- Retinoblastoma. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/retinoblastoma.
- Retinoblastoma. Merck Manual Professional Version website. Available at: http://www.merckmanuals.com/professional/pediatrics/pediatric-cancers/retinoblastoma.
- Tonorezos ES, Friedman DN, et al. Recommendations for Long-Term Follow-up of Adults with Heritable Retinoblastoma. Ophthalmology. 2020 Nov;127(11):1549-1557.
- What is retinoblastoma? Eye Smart—American Academy of Ophthalmology website. Available at: https://www.aao.org/eye-health/diseases/what-is-retinoblastoma.
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