Retinoblastoma

By Ashly Lipscomb

Background Information

Retinoblastoma, or sometimes called Rb for short, is a rare type of eye cancer that is common in children under 5. It is a cancerous tumor that develops in the retina of the eye, which is specialized light-sensitive tissue at the back of the eye that detects light and color. It was discovered by Rudolf Virchow in 1864. Retinoblastoma is a scary thing for any parent who has a child with this disease, but you shouldn't worry.

Symptoms

Of course, just like any disease, Retinoblastoma has many symptoms that affect children. The most common symptom is a white pupil reflex. This is how most parents can detect if their child has RB. The eye's pupil will look red and when shone on with a flashlight it will appear white as shown in the left picture. Other symptoms are as followed:


  • Lazy eye (strabismus)
  • Vision problems
  • pain in eye
  • bulging or redness of the eye
  • bleeding in the front part of the eye
  • different color in each iris

Where does RB occur and why does it occur?

Retinoblastoma is a single gene mutation. There is a gene on chromosome 13 that is called RB1. The RB1 gene provides instructions for making a protein called pRB. This pRB is a tumor surpresser gene which means that it regulates cell growth and keeps cells from dividing too fast or uncontrollable. Cells with two altered copies of the RB1 gene produce no functional pRB and are unable to regulate cell division effectively. As a result, retinal cells lacking functional pRB can divide uncontrollably to form cancerous tumors.
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Genetic Testing

There are 44 available tests to see if a person has retinoblastoma. The most common way is to just do a regular blood or body fluid test. However, the list just goes on and on from imaging tests, ultrasounds, MRI's, CT scan, bone scan, and in very rare cases a biopsy but a simple blood test would most likely be your best option.

Is there any way to prevent Retinoblastoma?

Sadly no, you cannot prevent RB. 60% of the time retinoblastoma comes from in the eye itself with no indication of it happening. The other 40% is sex-linked and comes from heredity. The only way of ensuring that your child will not have RB is if the mother would have a clean embryo implanted. If you want to skip all that fuss just have your children scanned early after birth. The only other good new is that RB rarely causes death.

Organizations/Support Groups for RB

  • The American Cancer Center
  • Online support group: R-blastoma
  • Jessie Rees Foundation-NEGU