Retinoblastoma is a malignant tumor which affects retina, the region of the eye that turns the luminous stimuli into nervous signals that are sent to the brain. It is the most frequent ocular cancer in childhood. There are two types of retinoblastoma: those that are caused by a mutation in the cells of the retina and those that are the result of a genetic mutation in all the cells of the individual.
Retinoblastoma resulting from the mutation of retinal cells (photoreceptors) is sporadic, affects only one eye and rarely manifests from birth.
Already the universal retinoblastoma, in which all the cells of the individual present the mutation that causes the development of the tumor, is hereditary, reaches the two eyes and may be present from birth.
Only a small part of the retinoblastomas are hereditary, that is, transmitted from parents to children. The vast majority of cases have unknown causes.
The main sign of retinoblastoma is the replacement of normal black pupil color or red reflex in flash white shine, similar to the cat's eye in the dark. The tumor can also manifest itself through a strabismus (ocular deviation).
Other signs and symptoms of retinoblastoma may include redness in the eye, eye pain, decreased vision, inflammation around the eye, dilation of the pupil, and iris color change.
It is possible to detect retinoblastoma through a flash photography. Children with cancer do not have the "red eyes" resulting from the light reflection on the retina. In these cases, a white spot appears in the pupil, which is the result of the light reflected in the tumor itself.
If not diagnosed and treated early, the cancer can spread to other organs, such as the brain, and be fatal. Treatment of retinoblastoma depends on the degree of disease progression. The best results are achieved in the early stage of the tumor.
Small and medium tumors can be treated with laser, cryotherapy, chemotherapy and brachytherapy. The treatment of large tumors is usually surgical, with the removal of the eyeball.
A child with a suspected retinoblastoma should be taken to an ophthalmologist as soon as possible to have the necessary tests done to diagnose the disease. The treatment is defined by the ophthalmologist and the pediatric oncologist.
