Learning About Retinoblastoma

What is it?

Simply put, retinoblastoma is a rare malignant tumor of the retina that most commonly affects young children.  It is a cancer of the eye that starts in the retina, and although considered an early childhood cancer, it can occur (rarely) in adults as well.  This type of eye cancer effects the retina, as mentioned, which is the part of the eye that is responsible for sensing light and sending images of what you see to the brain.  The layer of nerve tissue that makes up the retina sends signals of the light it senses through the optic nerve to the brain.  It is in the brain that these signals are translated into the images we ultimately see.


What are the signs and symptoms of retinoblastoma?

Retinoblastoma can happen in just one eye or both.  Here are some signs to look for:

·         Abnormal appearance of the retina, seen through the pupil

o   This is usually a white color in the center of the eye when light is shone at it, or white eye reflection similar to the eyes of a cat in a photograph

·         “Crossed-eyes”

o   Eyes that appear to be looking in different directions

·         Eye redness

·         Eye swelling or enlargement

·         Deterioration of vision

You should seek the advice of a physician if you observe any concerning changes to your child’s eye or eye color.  These changes do not necessarily mean you suffer from retinoblastoma, but any deviation from the norm should warrant an optic evaluation. 

What causes this rare cancer?

Retinoblastoma occurs when the nerve cells in the retina undergo harmful genetic mutations. These mutations cause the growth and multiplication of unhealthy cells, instead of the cell death that would occur in a normal cell cycle.  The abnormal growth of cells crowds out healthy cells and accumulates into a mass forming a malignant tumor. Left to grow, the retinoblastoma cells can extend beyond the retina, affecting other parts of the eye and the surrounding areas.  Eventually, this cancer can spread well beyond the original point of development to organs like the brain or the spine. 

In most children, there is no known cause of the retinal mutation or cancer.   For a portion of retinoblastoma cases, however, the disease, or genetic mutation, can be inherited from their parents. When it is inherited, the cancer is called hereditary retinoblastoma.  This is passed down from parents to children, in a dominant manner, where only one parents needs to carry a copy of the gene mutation for it to be passed down.  The risk of inheriting retinoblastoma is 50% if a parent carries the gene, which is quite high but doesn’t mean that the cancer is inevitable, just more likely. 

How is this condition treated?

In cases of retinoblastoma, a physician’s priority is to saving the life of the child, which may not always mean the preservation of vision.  Treatment is individualized for each patient and case, and some of the following therapies are used alone or in conjunction with one another:

·         Enucleation of the eye

·         External beam radiation

·         Brachytherapy

·         Thermotherapy

·         Laser photocoagulation

·         Cryotherapy

·         Chemotherapy

·         Radioactive plaques