Retinoblastoma
Tumor - retina; Cancer - retina; Eye cancer - retinoblastoma
Retinoblastoma is a rare eye tumor that usually occurs in children. It is a malignant (cancerous) tumor of the part of the eye called the retina.
The eye is the organ of sight, a nearly spherical hollow globe filled with fluids (humors). The outer layer or tunic (sclera, or white, and cornea) is fibrous and protective. The middle layer (choroid, ciliary body and the iris) is vascular. The innermost layer (the retina) is nervous or sensory. The fluids in the eye are divided by the lens into the vitreous humor (behind the lens) and the aqueous humor (in front of the lens). The lens itself is flexible and suspended by ligaments which allow it to change shape to focus light on the retina, which is composed of sensory neurons.
Causes
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.
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.
The cancer most often affects children younger than 7 years old. It is most commonly diagnosed in children 1 to 2 years old.
Symptoms
One or both eyes may be affected.
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.
Other symptoms may include:
- Crossed eyes (strabismus)
- Double vision
- Eyes that do not align
- Eye pain and redness
- Poor vision
- Differing iris colors in each eye
If the cancer has spread, bone pain and other symptoms may occur.
Exams and Tests
The health care provider will perform a complete physical exam, including an eye exam. The following tests may be done:
- CT scan of the head
- Eye exam with dilation of the pupil
- MRI of the head
- Ultrasound of the eye (head and eye echoencephalogram)
Treatment
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.
Outlook (Prognosis)
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.
If the cancer has spread beyond the eye, the likelihood of a cure is lower and depends on how the tumor has spread.
Possible Complications
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.
When to Contact a Medical Professional
Contact your provider if signs or symptoms of retinoblastoma are present, especially if your child's eyes look abnormal or appear abnormal in photographs.
Prevention
Genetic counseling can help families understand the risk for retinoblastoma. It is especially important when more than one family member has had the disease, or if retinoblastoma occurs in both eyes.
References
Houghton O, Gordon K. Ocular tumors. In: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, eds. Abeloff's Clinical Oncology. 6th ed. Philadelphia, PA: Elsevier; 2020:chap 64.
Kim JW, Berry JL, Murphree AL. Retinoblastoma. In: Sadda SR, Sarraf D, Freund KB, Hinton DR, Schachat AP, Wilkinson CP, Weidemann P, eds. Ryan's Retina. 7th ed. Philadelphia, PA: Elsevier; 2023:chap 129.
Nischal KK. Ophthalmology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 20.
Tarek N, Herzog CE. Retinoblastoma. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 529.
Version Info
Last reviewed on: 12/31/2023
Reviewed by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
