Retinoblastoma: MedlinePlus Medical Encyclopedia

P Retinoblastoma is a rare, cancerous tumor of a part of the eye called the retina.

T Causes
P Retinoblastoma is caused by a mutation in a gene that controls how cells divide. As a result, cells grow out of control and become cancerous.
P In about half the cases, this mutation develops in a child whose family has never had eye cancer. In other cases, the mutation occurs in several family members. If the mutation runs in the family, there is a 50% chance that an affected person's children will also have the mutation. These children will therefore have a high risk of developing retinoblastoma themselves.
P The cancer most often affects children younger than 6 years old. It is most commonly diagnosed in children 1 to 2 years old.

T Symptoms
P One or both eyes may be affected.
P The pupil of the eye may appear white or have white spots. A white glow in the eye is often seen in photographs taken with a flash. Instead of the typical "red eye" from the flash, the pupil may appear white or distorted.
P Other symptoms can include:
- Crossed eyes
- Double vision
- Eyes that do not align
- Eye pain and redness
- Poor vision
- Differing iris colors in each eye
P If the cancer has spread, bone pain and other symptoms may occur.

T Exams and Tests
P The health care provider will perform a complete physical exam, including an eye exam. The following tests may be done:
- CT scan or MRI of the head
- Eye exam with dilation of the pupil
- Ultrasound of the eye (head and eye echoencephalogram)

T Treatment
P Treatment options depend on the size and location of the tumor:
- Small tumors may be treated by laser surgery or cryotherapy (freezing).
- Radiation is used for both a tumor that is within the eye and for larger tumors.
- Chemotherapy may be needed if the tumor has spread beyond the eye.
- The eye may need to be removed (a procedure called enucleation) if the tumor does not respond to other treatments. In some cases, it may be the first treatment.

T Outlook (Prognosis)
P If the cancer has not spread beyond the eye, almost all people can be cured. A cure, however, may require aggressive treatment and even removal of the eye in order to be successful.
P If the cancer has spread beyond the eye, the likelihood of a cure is lower and depends on how the tumor has spread.

T Possible Complications
P Blindness can occur in the affected eye. The tumor can spread to the eye socket through the optic nerve. It may also spread to the brain, lungs, and bones.

T When to Contact a Medical Professional
P Call your provider if signs or symptoms of retinoblastoma are present, especially if your child's eyes look abnormal or appear abnormal in photographs.

T Prevention
P Genetic counseling can help families understand the risk for retinoblastoma. It is especially important when more than 1 family member has had the disease, or if retinoblastoma occurs in both eyes.

T Alternative Names
P Tumor - retina; Cancer - retina; Eye cancer - retinoblastoma

T Images
- Eye

T References
P Augsburger JJ, Bornfeld N, Correa ZM. Retinoblastoma. In: Yanoff M, Duker JS, eds. Ophthalmology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 8.1.
P Karcioglu ZA, Haik BG. Eye, orbit, and adnexal structures. In: Niederhuber JE, Armitage JO, Doroshow JH, Kastan MB, Tepper JE, eds. Abeloff's Clinical Oncology. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 67.
P National Cancer Institute: PDQ childhood astrocytomas treatment. Bethesda, MD: National Cancer Institute. Date last modified August 14, 2015. www.cancer.gov/types/brain/hp/child-astrocytoma-treament-pdq. Accessed: January 19, 2016.

T Review Date 12/23/2015
P Updated by: Adam S. Levy, MD, Division of Pediatric Hematology/Oncology, The Children's Hospital at Montefiore, Bronx, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

