Retinoblastoma (patient information)
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Retinoblastoma |
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Retinoblastoma On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Jinhui Wu, M.D,Jyostna Chouturi, M.B.B.S [2], Sahar Memar Montazerin, M.D.[3]
Overview
Retinoblastoma is a cancerous tumor in the eyes. It usually occurs in children under 3 years. Epidemiological data suggest that the development of retinoblastoma is related to heredity. Usual symptoms include strabismus, white or pink pupil when shining, vision problems, eye pain, etc. Ultrasound, computed tomography (CT) scan and magnetic resonance imaging (MRI) may help diagnosis. Treatments involve surgery, radiation therapy, chemotherapy, laser therapy, cryotherapy, thermotherapy, or high dose chemotherapy and stem cell transplant.
What are the symptoms of Retinoblastoma?
Retinoblastomas are usually found in infants or children.
- The center circle of the eye (pupil) often appears white or pink when you shine a light in a child's eye.
- Lazy eye (strabismus): Both eyes do not appear to look in the same direction.
- Vision problems
- Eye pain
- Redness of the white part of the eye
- A pupil that does not get smaller when exposed to bright light
- Eye swelling
Other health problems may also cause these symptoms. Only a pediatrician can tell for sure. A person with any of these symptoms should tell the doctor so that the problems can be diagnosed and treated as early as possible.
What causes Retinoblastoma?
- Retinoblastoma is caused by a mutation in a gene controlling cell division of retinal cells, causing these cells to grow out of control and become a pile of cells (tumor).
- It is not clear what causes the mutation, but in some cases, children can inherit the mutation from their parents (Familial form).
- In a little over half of the cases, this mutation develops in a child whose family has never had eye cancer.
- After the development of the tumor within the eye globe, it also may invade the nearby structures or even spread to further sites of the body.
Who is at highest risk?
- Those who have a mutation in the RB1 gene are at risk of tumor development.
- A person with a family history of members of retinoblastoma in a parent, sibling, or first/second-degree relative is also at risk.
Diagnosis
The following methods are used to diagnose the tumor:
- Eye exam: The doctor will do an eye exam to determine what's causing your child's signs and symptoms. The doctor may also recommend using anesthetics to keep the child still.
- Imaging studies: These methods help the physician to assess the tumor growth and invasion to the nearby structures. Imaging studies are such as:
- Ultrasound: a painless test which uses sound waves to create a picture of the eyeballs and locate the approve the tumor presence.
- Computed tomography (CT) scan: It can confirm the location of cancer and show the tissues near the tumor.
- Magnetic resonance imaging (MRI): An MRI produces detailed images of the body. Like computed tomography (CT), a contrast agent may be injected into a patient’s vein to create a better picture.
- Whole Bone Scan: The goal of a whole body bone scan is to show if cancer has spread and involve the bones.
When to seek urgent medical care?
- Call your health care provider if you notice any change in your child'eye that concerns you.
- If you have a family history of retinoblastoma ask your primary care provider when to start eye exam in your child.
Treatment options
Treatment differs depending on the following factors:
- Size of the tumor
- Location of the tumor
- Spread of the tumor to the structures other than the eye
- Overall health status of the affected child
- The parents' preferences
Available treatment options are: Chemotherapy which kills the cancerous cells using chemical drugs.
- It can be prescribed in pill form or through the blood vessels.
- This method causes the tumor to shrink, so other treatment forms treat the remaining tumor (if any).
- This treatment can decrease the need for eye surgery.
- It may also be used in case of spread of tumor outside the eye globe and other sites of the body.
- intra-arterial chemotherapy, a new type of chemotherapy, transfer the chemical drug directly to the tumor via a tiny tube (catheter) in the eye artery.
- Intravitreal chemotherapy is also used for retinoblastoma that has spread within the eye via direct injection of the chemical drug into the eye.
- This method is usually used when the tumor is resistant to other types of treatment.
Radiation therapy which kills cancerous cells using high energy beams such as X-ray and protons.
Patients with retinoblastoma have many treatment options. The selection depends on the stage of the tumor. The options are surgery, radiation therapy, chemotherapy, laser therapy, cryotherapy, thermotherapy, or high dose chemotherapy and stem cell transplant. Before treatment starts, ask your health care team about possible side effects and how treatment may change your normal activities. Because cancer treatments often damage healthy cells and tissues, side effects are common. Side effect may not be the same for each person, and they may change from one treatment session to the next.
- Surgery: The surgery is called enucleation. During the surgery, an orbital implant is also put in to take the place of the eyeball.
- Radiation therapy: This is a cancer treatment to kill cancer cells or keep them from growing by using high-energy x-rays or other types of radiation.
- Chemotherapy: The treatment is to use drugs to stop the growth of cancer cells either by killing the cells or by stopping them from dividing.
- Laser therapy: This treatment uses laser beams to destroy the tumors and the blood vessels that supply them. It is effective only for smaller tumors.
- Cryotherapy: Cryotherapy uses a very cool, small probe to kill the retinoblastoma cells by freezing them. It is only effective for a relatively single small tumor.
- Thermotherapy: Thermotherapy uses infrared waves to treat retinoblastoma.
- High dose chemotherapy and stem cell transplant: This treatment is used to treat children with retinoblastoma that has spread.
Where to find medical care for Retinoblastoma?
Directions to Hospitals Treating retinoblastoma
Prevention of Retinoblastoma
- Because retinoblastoma is caused by a genetic mutation, it remains unpreventable. But it is very important to detect cancer early and get the most effective treatment.
- In the inheritable form of the disease, however, other children of the family should be screened using genetic analysis for the presence of the mutation, so eye exam can start at an early age and diagnose the tumor when it is surgically removable.
What to expect (Outlook/Prognosis)?
The prognosis of retinoblastoma depends on the following:
Possible complications
- Invasion of the tumor to the nearby structure
- Development of other tumors in inheritable form of the tumor
- Return of the tumor in the treated eye
- Side effects of radiotherapy