Retinoblastoma is a rare, cancerous tumor of a part of the eye called the retina.
Tumor – retina; Cancer – retina
Retinoblastoma is caused by a mutation in a gene that controls how cells divide. As a result, cells grow out of control and become cancerous.
In about half the cases, this mutation develops in a child whose family has never had eye cancer. In other cases, the mutation occurs 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. These children will therefore have a high risk of developing retinoblastoma themselves.
The cancer most often affects children younger than 6 years old. It is most commonly diagnosed in children 1 to 2 years old.
One or both eyes may be affected.
The pupil of the eye may appear white or have white spots. A white glow in the eye is often seen in photographs taken with a flash. Instead of the typical “red eye” from the flash, the pupil may appear white or distorted.
Other symptoms can include:
- Double vision
- Eyes that do not align
- Eye pain and redness
iriscolors in each eye
If the cancer has spread, bone pain and other symptoms may occur.
Exams and Tests
The health care provider will perform a complete physical exam, including an eye exam. The following tests may be done:
Bone marrow biopsyand cerebrospinal fluid examinationin the case of more aggressive tumors CT scanor MRI of the head
- Eye exam with dilation of the pupil
Ultrasoundof the eye ( head and eye echoencephalogram)
Treatment options depend on the size and location of the tumor:
- Small tumors may be treated by
laser surgeryor cryotherapy.
- Radiation is used for both local tumor and for larger tumors.
Chemotherapymay be needed if the tumor has spread beyond the eye.
- The eye may need to be removed (a procedure called enucleation) if the tumor does not respond to other treatments. In some cases, it may be the first treatment.
If the cancer has not spread beyond the eye, almost all patients can be cured. A cure, however, may require aggressive treatment and even removal of the eye in order to be successful.
If the cancer has spread beyond the eye, the likelihood of a cure is lower and depends on how the tumor has spread.
Blindness can occur in the affected eye. The tumor can spread to the eye socket through the optic nerve. It may also spread to the brain, lungs, and bones.
When to Contact a Medical Professional
Call your health care provider if signs or symptoms of retinoblastoma are present, especially if your child’s eyes look abnormal or appear abnormal in photographs.
Genetic counseling can help families understand the risk of retinoblastoma. It is especially important when more than one family member has had the disease, or if retinoblastoma occurs in both eyes.