Retinoblastoma

Diagnosis

Retinoblastoma diagnosis often begins with an eye exam. Imaging tests can help show the size of the cancer.

Eye exam. A healthcare professional closely examines your child’s eyes, which may include checking vision and using a special light to look inside the eye. Young children may have difficulty holding still, so medicine to create a sleep-like state may be recommended. The exam results help the healthcare team understand what is causing the symptoms.

Imaging tests. Imaging tests create pictures of the inside of the body and are used to examine the eye and nearby structures. These tests can show the size of the cancer and whether it has grown beyond the eye. Imaging may include ultrasound and MRI, among other options.

Genetic testing. Genetic testing uses a sample of blood or saliva to look for variations in DNA. Testing for retinoblastoma focuses on the RB1 gene. All children with retinoblastoma have RB1 variations in their cancer cells, but some have the variations in all cells of their bodies. This can be inherited from a parent or occur during development in the womb.

If RB1 variations are found in all body cells, it helps guide treatment decisions and identifies a higher risk of other types of cancer. Screening tests may be recommended to watch for these cancers.

More Information
CT scan
MRI
Ultrasound

Treatment

Common retinoblastoma treatments include chemotherapy, cold therapy and laser therapy. Radiation therapy may also be an option. Surgery to remove the eye is used only in specific situations.

The best treatment depends on several factors, including the size and location of the cancer, whether it has spread, your child’s overall health and family preferences.

Chemotherapy. Chemotherapy uses strong medicines to treat cancer and is often the first step in treatment. Additional treatments may follow to destroy any remaining cancer cells.

Types of chemotherapy used for retinoblastoma include:

• Chemotherapy that travels through the entire body. Medicines are given through a vein or taken as a pill. This is called systemic chemotherapy and is typically given monthly for several months.
• Chemotherapy put into an artery near the cancer. In intra-arterial chemotherapy, a thin tube is inserted through the skin into an artery in the groin and guided to the eye. Medicine is delivered directly to the eye each month for a few months.
• Chemotherapy injected in the eye. Intravitreal chemotherapy uses a needle to inject medicine directly into the eye. It is usually used after other treatments when cancer remains or returns.

Cold therapy. Cold therapy, or cryotherapy, uses extreme cold to destroy cancer cells. It is typically used after chemotherapy or as the only treatment for very small retinoblastomas. A very cold instrument is placed on the eye to freeze the targeted cells. Once frozen, the instrument is removed, allowing the cells to thaw. This freeze-thaw cycle is repeated several times.

Laser therapy. Laser therapy uses focused laser light to heat and damage cancer cells. This procedure is called transpupillary thermotherapy. It is often used after chemotherapy or as the only treatment for very small tumors. Treatments are repeated every few weeks until no active cancer remains.

Radiation therapy. Radiation therapy uses powerful energy to treat cancer. Types include:

• Placing a radiation device on the eye. Plaque radiotherapy involves attaching a small disk containing radioactive material onto the eye for several days. This method targets the cancer while limiting exposure to healthy tissues.
• Using a machine to aim radiation at the eye. External beam radiation uses a machine to deliver X-rays, protons or other types of energy beams. Treatments happen daily for several weeks and are typically reserved for cancers extending beyond the eye because the beams can affect nearby delicate tissues.

Eye removal surgery. When other treatments fail or the cancer is too large, surgery to remove the eye may be necessary to prevent spread. Eye removal surgery includes:

• Surgery to remove the affected eye. Enucleation removes the eye and a portion of the optic nerve.
• Surgery to place an eye implant. A special ball, called an implant, is placed in the eye socket, and eye muscles may be attached to it.
• Fitting an artificial eye. After healing, a custom-made artificial eye is placed over the implant. It matches the appearance of the healthy eye and moves along with the implant.

Risks of surgery include infection and bleeding. Removing an eye affects vision, but most children adapt well. Protective eyewear is important to safeguard the remaining healthy eye.

Clinical trials. Clinical trials test new treatments or new ways of using existing treatments. They offer access to the latest therapies but cannot guarantee a cure. Your child’s doctor can explain eligibility, benefits and risks of participating in a trial.