Retinoblastoma (patient information)

For the WikiDoc page for this topic, click here


 * Associate Editor(s)-In-Chief: Jinhui Wu, M.D.

Overview
Retinoblastoma is cancerous tumor in eyes. It usually occurs in children under 3 years. Epidemilogical 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 invlove 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 because a parent or pediatrician notices a child's eye looks unusual.
 * The 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

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. Other conditions with similar symptoms are:


 * Coats disease
 * Retrolental fibroplasia
 * Persisent hyperplastic primary virtreus
 * Metastatic endophthalmitis

What causes Retinoblastoma?
Retinoblastoma is caused by a mutation in a gene controlling cell division, causing cells to grow out of control and become cancerous.

In a little over half of the cases, this mutation develops in a child whose family has never had eye cancer.

Other times the mutation is present in several family members. If the mutation runs in the family, there is a 50% chance that an affected person's children will also have the mutation. They will therefore have a high risk of developing retinoblastoma themselves.

The cancer generally affects children under the age of 6. It is most commonly diagnosed in children aged 1 - 2 years.

Who is at highest risk?
Heredity and age are the risk factors of retinoblastoma.
 * Heredity: Studies show that about 1/3 cases of retinoblastoma are caused by the Rb1 gene mutation. The rest 2/3 cases occur as a result of a random gene mutation.
 * Age: Most children diagnosed with retinoblastoma are younger than 3 years old.

Diagnosis

 * Ultrasound: This is an painless test which uses sound waves to create a picture of the eye balls. Because tumors generate different echoes of sound waves than normal tissue, the doctor can locate a mass inside the body. Ultrasound is one of the most commonly used imaging tests to confirm retinoblastoma is present.
 * Computed tomography (CT) scan: CT scans are often used to diagnose retinoblastoma. It can confirm the location of the cancer and show the tissues near the tumor.
 * Magnetic resonance imaging (MRI): An MRI uses magnetic fields but it is a different type of image than what is produced by computed tomography (CT) and 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 a cancer has metastasized to your bones.

When to seek urgent medical care?
Call your health care provider if symptoms of retinoblastoma develop.

Treatment options
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 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 related to heredity, a parent or child can do nothing to prevent this cancer. But it is very important to detect cancer early and get the most effective treatment.

What to expect (Outlook/Prognosis)?
The prognosis of retinoblastoma depends on the following:
 * Whether or not the tumor can be removed by surgery.
 * The stage of the cancer: the size of the tumor, whether the cancer has spread
 * The child’s general health

Possible complications

 * Local spread of tumor.
 * Development of other tumors.
 * Cataract from radiotherapy.
 * Failure of tooth eruption after radiotherapy.
 * Bony deformities