Retinoblastoma

Retinoblastoma is the most common form of eye cancer in children. Multiple tumors can develop in one or both eyes. The condition most commonly affects children under 3 years of age. It is a rare type of cancer, affecting approximately 300 children in the U.S. annually.

Retinoblastoma first develops in the retina (the sensitive lining on the inside of the eye). If not treated, the cancer can metastasize (spread) outside the retina to the fluid inside the eye, the eye socket, the optic nerve, the brain and the bones and bone marrow. Most retinoblastomas are found and treated before they have spread outside the eyeball.

Ninety-five percent of children with retinoblastoma are diagnosed before they are 5 years old. Children with retinoblastoma in both eyes are usually diagnosed around the age of 12 months. Those with retinoblastoma in one are usually diagnosed when they are around 24 months old.

Forty percent of children with retinoblastoma have a genetic defect for retinoblastoma. This may be acquired or inherited. Throughout their lives, children with hereditary retinoblastoma are at higher risk to develop other cancers. They have a 45 percent chance of passing this genetic defect on to their children.

Sixty percent of children with retinoblastoma have nonhereditary retinoblastoma, which affects only one eye.

Symptoms of retinoblastoma include:

Leukocoria (leukokoria), a white in the pupil (center) of the eye when light shines in the eye, such as when taking a flash photograph
Strabismus, a condition in which the eyes appear to be looking in different directions
Decreased vision
Inflammation of the eye
Eye pain

More than 95 percent of treated patients can be cured if the tumor is contained within the eye. For children with retinoblastoma in both eyes, about 70 to 80 percent of the eyes can be saved.

Diagnosis of Retinoblastoma

If your child has symptoms of retinoblastoma, pediatric ophthalmologists and pediatric oncologists at Riley at IU Health can perform diagnostic tests and exams, some of which may require diagnostic and interventional anesthesia. Diagnostic tests that are commonly used include:

Eye exam. A pediatric ophthalmologist will thoroughly examine your child’s eyes while your child is under general anesthesia.
Ultrasound. One of the most common diagnostic tests for retinoblastoma is ultrasound. It uses sound waves to create images of the inner eye. Ultrasound is usually performed under general anesthesia. It is used to make the diagnosis and evaluate the characteristics of the tumor such as calcification, location, size and spread within the eye.
Magnetic resonance imaging (MRI). This imaging procedure uses a magnetic field and radio waves to produce highly detailed images of the eye and surrounding structures without using radiation. MRI is used to measure the tumor size and evaluate whether the retinoblastoma has spread outside of the eye and into the brain.

Tests that are rarely used to diagnose retinoblastoma include:

Computed tomography (CT). In selected cases, radiologists use CT scans, which use X-rays, to create multiple cross-sectional images of the abdominal area to reveal tumors that have spread from the eyes.
Positron emission tomography (PET) scan. Growing tumors absorb large amounts of sugar. PET scans use a small amount of radioactive glucose (a form of sugar) injected into the bloodstream to determine if retinoblastoma has spread anywhere else in the body.
Bone scan. This test determines if the retinoblastoma has spread to the skull or other bones. Radiologists inject a small amount of radioactive material into a vein. Any cancerous areas in the bones will appear as bright spots in the images.
Bone marrow biopsy. A small amount of bone marrow is biopsied and observed under a microscope to determine if the retinoblastoma has spread to the bone marrow.
Lumbar puncture (spinal tap). This test can determine the presence of retinoblastoma cells in the cerebrospinal fluid, which surrounds the brain and spine, to determine if cancer has spread to the brain.

Treatments

Treatment for retinoblastoma depends on factors such as:

Whether one or both eyes are affected
How far away the tumor is from the macula (the eye’s area of sharpest vision)
If the tumor affects vision
Whether the tumor has spread within the eye or outside of the eye

Treatment may involve one or a combination of the following therapies:

Chemotherapy. Chemotherapy involves taking medicines that kill cancer cells. These medicines may be injected into the bloodstream, into the main artery feeding the eye (intra-arterial chemotherapy) or directly into the vitreous humor, the eye’s liquid interior (intravitreal chemotherapy).
Focal therapy. Used for smaller tumors and often in combination with chemotherapy, this group of therapies includes cryotherapy (killing tumor cells with extreme cold) and laser therapy (destroys blood vessels feeding the tumor).
Radiation therapy. High-energy X-rays kill cancer cells. Brachytherapy is the most common type of radiation therapy for retinoblastoma. A small piece, or seed, of radioactive material is implanted close to the tumor for a few days. High-dose, focused-beam external radiation therapy is rarely used to treat retinoblastoma because of the side effects which include burns to the skin, hair loss and damage to the eye.
Surgery. Children with advanced retinoblastoma may require surgery to remove the affected eye.
Stem cell transplant. This is used very rarely when the tumor has spread to the brain, bones or bone marrow. A stem cell transplant allows oncologists to use a higher dose of chemotherapy than normal by replacing bone marrow lost during chemotherapy.

Key Points to Remember

Retinoblastoma is the most common form of eye cancer in children.
The condition is rare, affecting approximately 300 children in the U.S. annually.
More than 95 percent of treated patients can be cured if the tumor is contained within the eye.
For children with retinoblastoma in both eyes, about 70 to 80 percent of the eyes can be saved.
Retinoblastoma can be hereditary (passed down in families) or nonhereditary.

Support Services & Resources

Visit the trusted websites below to learn more about retinoblastoma.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

American Cancer Society

This detailed guide from the American Cancer Society provides information on the causes, diagnosis and treatment of retinoblastoma.

National Cancer Institute

Read more patient-friendly information about retinoblastoma on the National Cancer Institute website.

Retinoblastoma Research

The cancer specialists at Riley at IU Health are currently studying the side effects and outcomes of treating extraocular retinoblastoma with combination chemotherapy, autologous stem cell transplant and/or radiation therapy. Your child may be eligible for participation in this clinical trial. Speak with your child's doctor for more information or read the trial summary on the Indiana University Health Melvin and Bren Simon Cancer Center website.

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