Retinoblastoma

Retinoblastoma is a tumor that arises from the retina.  It usually affects children less than five years of age and the average age of diagnosis is 12 to 18 months. This condition affects approximately 300 children per year in the United States. With current modalities of treatment, the survival from retinoblastoma is more than 95 percent. However, early detection and intervention is very important to prevent spread to the brain and the rest of the body.

Causes

The tumor develops due to a genetic abnormality in one of the chromosomes of the body. Ten percent of children who get retinoblastoma have a family history and 90 percent develop without any family history. Retinoblastoma is not caused by any environmental factors, and there is nothing that parents did or did not do that causes the gene abnormality. 

How would I know if my child has Retinoblastoma?

Most commonly, retinoblastoma is detected by the presence of a white glow in the pupil. It is often noticed by parents when they are reviewing photos of their children. Retinoblastoma may also present as eye drifting (strabismus).

Exams and Tests

Due to the fact that it is difficult to examine the eyes of young children, it is necessary to do some exams while the child is under anesthesia to diagnose retinoblastoma.

Exams under anesthesia (EUA) that will be performed include:

Ultrasound:  

Just like a mother sees her baby for the first time using ultrasound, an ocular ultrasound will be performed in the office (and under anesthesia) to visualize the tumor. This consists of a cold jelly with a vibrating probe that is gently placed over the eyelid.

Fluorescein Angiography:

The blood vessels inside the eye are seen using a fluorescent dye that is injected into a small vein. This dye is different than contrast used for CT or MRI and there is a 1 in 10,000 chance of severe allergy. Because the dye is eliminated by the kidneys, the urine may be dark or orange for a few days. This test is done to see the blood supply to the tumor. 

Magnetic Resonance Imaging (MRI):

An MRI is performed at diagnosis and then every six months for the first five years. Rarely, a brain tumor can be associated with Retinoblastoma and an MRI is used to diagnose it.

Genetic Testing:

Your doctor will advise a genetic testing of the blood, which can determine if the child has the genetic form of the disease. If the blood testing for genetic disease is positive, the child’s siblings and future children are at risk of developing the disease and your doctor will recommend a screening guideline for the whole family.

Does Retinoblastoma affect both eyes?

Forty percent of children with Retinoblastoma have a genetic form of the disease, even if no one in their family has the disease. These children are at risk of developing retinoblastoma in both eyes. Your doctor will closely watch both eyes during the treatment course.

Treatment

The goals of treatment in order are:

  1. Save the child’s life.
  2. Save the eye.
  3. Save and maximize vision.

The treatment is tailored to each patient. Often a combination of treatments is used to achieve disease control. Treatment options include a combination of local, systemic and/or radiation therapy.

Local Therapy

This therapy is performed with chemotherapy during an exam under anesthesia.

Laser: A safely directed laser heats up tissue to help shrink the tumor.

Cyro (freezing): The tissue is frozen to help facilitate chemotherapy. This therapy may cause some eyelid swelling. 

Chemotherapy

Systemic: Delivered in collaboration with UofL Physicians - Pediatric Cancer & Blood Disorders every 4 weeks for 6 months.

Intra-arterial: Specialized delivery only to the eye using a catheter that goes through an artery in the leg. This therapy is performed by Endovascular neurosurgeons at Kosair Childrens Hospital. 

Intra-vitreal: For active tumor in the jelly (vitreous) of the eye, chemotherapy is injected directly into the eye during an exam under anesthesia using a specialized procedure.

Radiation Therapy

Plaque: Localized radiation to the eye where a radioactive disc is sewn to the eye. The disc is then removed after 3-4 days.

                                       

External beam: Radiation given from the outside of the eye. This therapy is reserved for more advanced cancers.

Surgery

Removal of the eye, or enucleation, is reserved for advanced cases of retinoblastoma to prevent spread to the brain and the rest of the body. Following the procedure, prosthesis is placed with very good cosmetic results.

Genetic Counseling