Retinoblastoma

Definition

Definition of Retinoblastoma
Retinoblastoma (Rb) is a rapidly developing cancer that develops in the cells of retina, the light-detecting tissue of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers (95-98%), with more than nine out of every ten sufferers surviving into adulthood.

Symptoms

Symptoms of Retinoblastoma

1. One or both eyes may be affected.
2. They pupil 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.

Causes

Causes of 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.

Diagnosis

Diagnosis of Retinoblastoma
The doctor will perform a complete physical exam, including an eye exam. The following tests may be done:

1. Eye exam with dilation of the pupil
2. CT scan or MRI of the head
3. Ultrasound of the eye (head and eye echoencephalogram)
4. Bone marrow biopsy and cerebrospinal fluid examination in the case of more aggressive tumors

Treatment

Treatment of Retinoblastoma
Treatment options depend upon the size and location of the tumor.

1. Small tumors may be treated by laser surgery or cryotherapy.
2. Radiation is used for both local tumor and for larger tumors.
3. Chemotherapy may be needed if the tumor has spread beyond the eye.

Prognosis

Prognosis of Retinoblastoma
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.

Prevention

Prevention of Retinoblastoma
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 the retinoblastoma occurs in both eyes.