genetic disorder

What is retinoblastoma?

Retinoblastoma is a rare form of cancer in children around 5 or younger. It is a disease in the eye's retina or light-sensitive tissue in the back of the eye that detects light and color.

On the photo to the right, the diagram describes eat element of the eye. The retina is the pink outer lining.

How do you get retinoblastoma?

Retinoblastoma is a genetic abnormality or change in a gene. It maybe sex-linked by inheritance or it could be sporadic (gene change that happens by chance). It is most commonly found on a chromosome named the "RB1 chromosome" due to the fact that this is where retinoblastoma often occurs. There are no environmental factors to the condition and 10% of children who are diagnosed with retinoblastoma have a family history of the disease. Approximately 300 kids are diagnosed with retinoblastoma per year in the United States.

The picture to the right displays the retina from an interior point of view but also the exterior view to show what is seen by the naked eye but also where the retina is located on the inside.

How do you know whether or not you have retinoblastoma?

Retinoblastoma is most commonly found through the visual presence of a white reflection in the pupil. It is also known to cause drifting of the eye. The disease can also be discovered by ultrasound, CT scans and MRIs.

The image on the right is a computer generated visual of the white mass created by retinoblastoma.

When and who discovered retinoblastoma?

Many scientists through the years have contributed to the discovery of retinoblastoma. Scientists such as Virchow, Flexner and Wintersteiner have all done work to further understand what the cancer was. However, in 1920, Verhoeff saw that the tumor came from embryonic retinal cells and discovered what retinoblastoma was.

To the left is a photo of scientist Virchow, a leading man in the discovery of retinoblastoma.

Is retinoblastoma life threatening?

Most patients with retinoblastoma will live. Medications have been discovered to target and help the disease. Medications have improved greatly and the survival rate has escalated by 95%. Although chances of survival are very positive, it can increase the risk of other cancer resulting in further damage such as vision loss.

What are the symtoms, side effects and harm the disorder causes?

Even though retinoblastoma can be harmless, it can increases the risk of other cancers such as sarcoma and melanoma if inherited. Symptoms are not the same for every patient but specific to each child. However, the key to discovering retinoblasotma is a white lump or mass noticed in the pupil. Some examples of common, noted symptoms and side effects are pain, redness, swelling of one of both eyes, Strabismus (lazy eye) and visual complications. If the cancer spreads it can result in more symptoms and side effects such as loss of appetite, weight loss, vomiting, headache and neurologic problems (ex. weakness, numbness, trouble with movement).

How do I prevent/cure retinoblastoma?

The parents did nothing to allow the disorder to form. There is nothing you can do to decrease your chances of getting the cancer. However, there are many paths you can take to attempt to cure retinoblastoma. Retinoblastoma is a strong disease and involves many eye doctors like oncologists, geneticists, radiation oncologists, interventional radiologists and more. Similar the symptoms and side effects, treatment is specific to each and every patient. Every diagnosis has different paths of cure and it is up to the family to choose their best option due to survival or even money. Families can choose laser photocoagulation or cryotherapy (freezing treatment), Chemotherapy, Systematic Chemotherapy (Drugs given through veins), Intra-arterial Chemotherapy (chemo given to a specific area in eye), Radiation therapy and Surgery (last resort, removal of eye replaced with a prosthetic).

The image on the top right is an example of a pathway a patient may take. It is a specific prosthetic replica of an eye after surgery.

Understanding Retinoblastoma