What is Retinoblastoma? An Introduction

Parents would do everything they can to keep their kids from feeling pain or becoming ill. Just imagine how devastating it is to learn that your child is diagnosed with retinoblastoma, the guilt and sadness must be too much to bear. In order to get through these tough times, it’s important to get a better understanding of the disease so you can plan your next steps to move forward.

A Rare Eye Cancer

Retinoblastoma is a type of visual cancer that typically forms in small children under the age of five. It can start as early as during the development period of the fetus in the womb. It begins when healthy cells change and grow out of control, creating a mass called a tumor. When the tumor is malignant, it can spread to other parts of the body. A benign tumor, on the other hand, stays in its place.

Children may be born with retinoblastoma, but the condition is rarely diagnosed at birth. It is crucial to treat the illness before it spreads to preserve vision. Many parents see the first signs of cancer after noticing that their child’s pupil appears whitish in bright light. You can also notice this effect in photographs.

Survival Rates

Data shows that retinoblastoma affects around 300 children in the United States yearly. The condition makes up two percent of all diagnosed children before the age of 15. It is more common to have only one eye affected, but in very rare cases, children have the disease in both eyes.

The good news is that survival rates are high. More than 95 percent of children diagnosed with retinoblastoma in one eye will survive the illness. When the disease spreads to the other eye, there is still an 80 percent chance of saving the patient.

Risk Factors

A risk factor refers to anything that can increase a person’s chance of developing cancer. While most of them have an influence on cancer growth, most do not directly cause it. For retinoblastoma, the only known risk factor is genetic mutation. Almost 40 percent of all cases associated come from genetic change and always occurs in toddlers. Despite these numbers, only 10 to 15 percent of patients have a family history of the disease.

Be aware that children who have the hereditary form of unilateral retinoblastoma or bilateral form of the cancer are at a higher risk of developing other tumors. The chance is even higher for kids who receive radiation therapy to the eye socket to maintain vision or to treat other parts of the body where the tumor has spread.

If you have a history of the disease in the family, take your newborn to an ophthalmologist as soon as you can. Look for someone who specializes in cancers of the eye.

Signs and Symptoms

Parents might notice the following symptoms if their child has retinoblastoma. However, not everything in this list may be due to cancer and could be a sign of a different medical condition.

  • An enlarged pupil
  • Poor vision
  • A crossed eye, which is an eye looking either toward the nose or the ear
  • A red, painful looking eye
  • A pupil that looks red or white, instead of the normal black
  • Different colors of the irises

Talk to your child’s eye doctor when you are concerned about these signs or changes. If these lead to cancer diagnosis, alleviating symptoms will be a permanent part of your kid’s cancer care.


Doctors have various ways to test for cancer. They also look at other parts of the body where the disease might spread. Aside from observing symptoms, here are exams your kid might undergo through.

  • Ultrasound – This equipment utilizes sound waves to create photographs of the internal organs. The doctor will move the transmitter over the patient’s body to look for a mass. A tumor produces a different echo from normal tissues, so the specialist can identify if anything requires attention. This procedure is painless.
  • Magnetic resonance imaging (MRI) – This method takes detailed images of the spinal column and the brain. It can measure the size of the tumor using a special contrast dye, which the patient may swallow as a pill or have it injected into a vein.
  • Computed tomography (CT or CAT) scan – This uses x-rays to form a 3-dimensional picture of the inside of the body. It allows for a cross-sectional view to show abnormalities or growth.
  • MRI or CT scan of the brain – Doctors recommend performing these scans every six months for children with genetic retinoblastoma. These tests look for an abnormality in the pineal gland, which is a small gland responsible for the body’s response to light.

Your physician may require more tests to see if cancer has reached elsewhere in the body. These will further help in identifying complications you need to tackle.

  • Blood tests – Examine the blood for issues with the kidneys and liver. Blood tests can also reveal changes in chromosome 13. These are the parts of a cell that contain gene and they are often nonfunctional for people with retinoblastoma.
  • Hearing test – Certain drugs and therapy for cancer can cause hearing loss. This is important to check your baby’s ability to hear.
  • Lumbar puncture (spinal tap) – The doctor will use an anesthetic to numb the patient’s lower back before starting this procedure. He or she will then take a sample of cerebral spinal fluid to test for cancer cells.
  • Bone marrow aspiration – A pathologist analyzes a sample fluid of the bone marrow to evaluate organs, tissues, and cells.

Treating retinoblastoma requires immediate action and early detection. Keep an eye out for common symptoms and any changes you encounter. Now that you have a deeper understanding of its implications, it’s time to seek professional help. Addressing your child’s medical condition head-on ensures their first step to recovery.

Visit Arizona Retinal Specialists for an assessment. We use only the most advanced equipment to give our patients the highest quality of care. Our dedicated team of doctors will do their best to get you and your child through this obstacle. Call us today at 623-474-3937 to schedule a consultation.



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