Retinoblastoma

What is Retinoblastoma

Retinoblastoma is a type of eye cancer that affects young children. Retinoblastoma starts in the light-sensitive lining in the back of your child’s eyeball (retina).

Retinoblastoma results when something goes wrong with eye development in the womb or early in life. Instead of developing into specialized eye cells (retinoblasts), the cells grow out of control and form a tumor (retinoblastoma). Retinoblastoma may occur in one eye or both eyes. It is usually diagnosed before a child is 3 years old.

What are the causes?

Retinoblastoma is caused by a gene defect (mutation) in the RB1 gene. This defect causes the damaged cells within the retina to keep growing and multiplying until they form large groups of abnormal cells called tumors.

The gene mutation may happen:

  • Before birth (congenital or hereditary). This is a rare form of retinoblastoma. The cause is usually genetic. This means that the defect is passed down through families (inherited).
  • After birth (sporadic or non-hereditary). This is the most common type of retinoblastoma. The exact cause is not known.

What are the signs or symptoms?

Symptoms of this condition include:

  • Pain in the eye.
  • Redness in the eye.
  • Bulging in the eye.
  • Bleeding in the eye.
  • An eye that is not aligned with the other when looking at an object (strabismus).
  • An eye that looks pink or white in a bright light, such as in a photo, or when a light is shined into the eye.
  • A pupil that appears larger than normal or does not get smaller when it is exposed to light.
  • Irises of different color.
  • Problems with vision.

How is this diagnosed?

This condition is diagnosed based on:

  • Your child’s medical history.
  • Genetic testing.
  • A physical exam and eye exam. The eye exam includes:
    • Using eye drops to make the pupil open wider (dilate).
    • Looking through the pupil into the back of the eye to examine the retina (fundoscopic exam) with a light (ophthalmoscope).

Your child may also need additional tests to stage the cancer. Staging will assist the medical team in planning your child’s treatment. For this phase of the diagnosis, your child’s health care provider will use ultrasound, CT, or MRI to determine:

  • How advanced the cancer is.
  • Where the cancer is located.
  • Whether it has spread along the optic nerve (intraocular) or outside of the eye (extraocular).

Your child may have other tests, including:

  • A bone scan to determine if the cancer has spread to the skull or other bones.
  • Biopsy. This include removing a sample of tissue from the tumor and looking at it under a microscope. A biopsy may also be taken of the inner part of the bone (bone marrow).
  • Lumbar puncture. This tests spinal fluid to see if cancer has grown along the optic nerve.

How is this treated?

Treatment for this condition may be different for each child. The best treatment for your child depends on the size and location of the retinoblastoma, whether it has spread, and how good the vision is in the eye. A team of specialty health care providers will determine the best course of treatment for your child.

Possible treatments include:

  • Radiation therapy to directly kill cancer cells. This includes X-ray treatments from a source outside the body (external beam radiation therapy) or from a disc that is placed in the eye (internal radiation therapy).
  • Photocoagulation. This uses a laser to destroy the blood vessels that feed the tumor.
  • Cryotherapy to kill cancer cells by freezing them.
  • Chemotherapy to kill cancer cells in the eye and prevent the spread of the cancer. This may include medicines that are given by mouth, into the blood, or directly into the eye.
  • Surgery to:
    • Remove as much of the cancer as possible.
    • Remove the entire eye (enucleation) in severe cases.
  • High-dose chemotherapy followed by a stem cell transplant. This is done to destroy cancer cells and replace them with healthy cells.

The goal of treatment is to save the affected eye, preserve your child’s vision, and decrease your child’s risk of getting cancer again later in life.

Follow these instructions at home:

  • Give over-the-counter and prescription medicines only as told by your child’s health care provider.
  • Have all members of your child’s family checked for this condition if your child’s condition is hereditary.
  • Learn as much as you can about your child’s condition.
  • Make plans to give extra help to your child as he or she copes with vision changes. Your child will need help with schoolwork and daily activities.
  • Ask your child’s cancer care team for a referral to a child-life specialist who can provide support to help you and your child cope during this time.
  • Keep all follow-up visits as told by your child’s health care provider. This is important.

Where to find more information

For more information about cancer resources and support, visit:

Contact a health care provider if:

  • Your child has any new symptoms.
  • Your child has eye pain that is getting worse.
  • The appearance of your child’s eye changes.
  • Your child’s eye becomes red.

Get help right away if:

  • Your child has a seizure.
  • There is a sudden change in your child’s vision.
  • Your child’s eye begins to bulge.

Summary

  • Retinoblastoma is a type of eye cancer that affects young children. Retinoblastoma starts in the light-sensitive lining in the back of your child’s eyeball (retina). It is usually diagnosed in children under 3 years old.
  • Retinoblastoma is caused by a gene defect (mutation). The mutation may be passed through families or happen without a known cause.
  • The goal of treatment is to save the affected eye, preserve your child’s vision, and decrease your child’s risk of getting cancer again later in life.
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