There’s a disease that lurks among young children even to this day. It’s a direct result of a mutation in the genes that could result in the removal of the eye. Both boys and girls are affected, and one in every fifteen to thirty thousand babies is infected every year (Ambramson, Ch1). This eye corrupting, chromosomal abnormality shows up in about 300-350 new cases each year. It is called retinoblastoma.

Many signs include a “white pupil,” also known as leukocoria. Retinoblastoma can occur in either one or two eyes (Paul T. Finger, Pg. 1). This abnormal white pupillary reflex is sometimes referred to as a cat\'s eye reflex. Another sign of retinoblastoma is a crossed eye (Ambramson, Ch3). Leukocoria doesn’t always end up as being retinoblastoma, it can even result in: congenital cataract, Toxocara canis, Coat’s disease, and persistent hypertrophic primary vitreous (PHPV) (Finger, Pg.2). Retinoblastoma occurs when there’s a mutation or deletion of the q14 band of chromosome 13 (Finger, Pg. 1). Symptoms can be painful if not treated quickly. Some include a red, painful eye, swelling of the surrounding eye, poor vision, dilated pupil, even extra fingers or toes, and retardation (Ambramson, Ch3).

There is a very limited number in how this disease can be treated. I can be examined under anesthesia, specialized blood tests, CAT scans, and ultrasound (Finger, Pg. 1). Normally, a child would be examined if there were a past history of retinoblastoma from the parents. There would be a slim chance if a child shows up with the disease if the parents had ever had it. Normally, parents are the ones to notice the “white pupil” first (Ambramson, Ch6). The optometrist would recommend an ophthalmologist, who uses anesthesia to analyze the eye. He/she will then dilate the eyes to view the retina in search of tumors or abnormalities and where they are located. Sketches are then drawn or photographs using specialized equipment would be taken. Ultrasound would be used afterwards to determine the thickness and height if a tumor was found. Finally, a CAT scan is used to determine if the tumor is inside the eye or outside of their brain (Ambramson, Ch6). Once this is completed, the process of treatment would begin.

Treatment methods include enucleation, external beam radiation, and chemo reduction. Enucleation, the most common process, is simply the removal of the eye. It is the easiest way to rid of the entire cancerous tumor safely while the child is asleep. Other methods are possible but are quite dangerous and can result in other cancers. Once the socket heals up, about three weeks later, a false eye is put into place. If both eyes need treatment, the worst of the eyes is removed while the other will be salvaged as much as possible. Because retinoblastoma is sensitive to radiation, a series of treatments over a period of four or five weeks is given. This reduces the size of the tumor in most cases and preserves eyesight. Chemotherapy is another way of reducing the size of the cancer by using chemotherapy for several weeks. Occasional treatments may be required afterwards about every three weeks to re-examine the eye. (Ambramson, Ch8) Oddly, Retinoblastoma protein activation of interleukin 8 expressions inhibits tumor cell survival in nude mice (Zhang H. PubMed). Could this be used in the future in humans? Only time can tell!

Even though this eye cancer does not occur as often as some other diseases, it can be devastating for a child to lose their eyesight in one, or even two eyes. Someday, there will be a cure for retinoblastoma, as well as other chromosomal mutations. At least, the prognosis of children resulting of retinoblastoma is a full life with a prosthetic eye or reduced vision. Some may receive second tumors, cataracts, or possibly other diseases, but they can still live and enjoy their lives (Ambramson, Ch9).

Bibliography: Copyright Paul T. Finger,MD 1998-2001

Zhang H. PubMed. December 2000.
H. Lee Moffitt Cancer Center and Research Institute. Http://

David H. Abramson, MD. A Parent’s Guide to Understanding Retinoblastoma.
Copyright 1997 Abramson/Servodidio.