What Is Retinoblastoma?

Retinoblastoma is a rapidly developing childhood cancer. It develops in the cells of the retina--the light sensitive cells of the eye. Retinoblastoma has one of the highest cure rates of all cancers. In developed countries of the world, retinoblastoma has a 95 to 98 percent cure rate.

Features

• There are two forms of retinoblastoma; a genetic heritable form and a nongenetic form. In approximately 55 percent of the cases, there is no family history of retinoblastoma, but this does not specifically indicate that the disease is the nongenetic form. Most often retinoblastoma only affects one eye, called unilateral retinoblastoma; however, there is about a 30 percent chance that retinoblastoma will develop in both eyes, which is referred to as bilateral retinoblastoma. There is no consistency in the number of tumors that may appear with retinoblastoma. The treatment plan will depend on the number, size and specific characteristics of the tumors themselves.

Characteristics

• One of the most frequently noticed signs of retinoblastoma is an abnormal appearance of the pupil. It is common to notice this abnormal appearance when taking a photograph when a flash is used. Instead of the common "red eye" syndrome often seen in photographs, the child with retinoblastoma will have a white or yellow spot appear with the flash. If you notice this in a child's photograph, you should contact your physician or pediatrician for further investigation. Be sure to take the photograph with you. The white or yellow appearance of the pupil may also be visible in low artificial light. Ophthalmologists often refer to this syndrome as "cats eye." Although this is not a definitive diagnosis for retinoblastoma, it is a sign that the eye should be further examined, as early treatment is always the best.

Frequency

• There are approximately 50 new cases of retinoblastoma diagnosed each year in the United States, making retinoblastoma considered a rare form of cancer. There is approximately one case in every 20,000 births worldwide. Most cases of unilateral retinoblastoma are usually diagnosed by the time the child is 1 year old, with diagnosis of bilateral retinoblastoma usually being diagnosed later, at about 2 to 3 years of age.

Causes

• It is not known exactly what causes retinoblastoma, but it is an error on chromosome 13, which is called the RBI gene. The defective gene can be inherited from either parent. It is most likely caused by a random mistake during fetal cell division. There is no preventive course of action.

Treatment

• The first and most important part of treatment is to preserve the life of the victim. Then treatment focuses on preserving the vision and minimizing any complications that may arise from treatment. The treatment plan will depend upon the individual case and will develop as the diagnosis and severity of the case is determined. Treatment may include chemotherapy, radiation, surgery, laser therapy, cryotherapy or any combination of these treatments.