|Although uncommon and occurring in only 1 in 18,000 to 20,000 live births, retinoblastoma is the most common tumor of the eye and usually occurs in the first few years of a child's life and most cases (90%) occur before age 5. Although not as common, older children can get retinoblastoma too, and they usually complain of eye pain or decreased vision in the affected eye. Retinoblastoma is responsible for causing 5% of the cases of childhood blindness.
There is a tumor suppressor gene on the long arm of chromosome 13 and it is the retinoblastoma gene. The presence of this gene helps to suppress retinoblastoma from forming by forming a protein that is though to help regulate cell growth. If both copies of the gene are mutated or absent, then retinoblastoma can form. In familial or genetic forms of retinoblastoma, one copy of the defective gene is usually inherited and the other one becomes mutated. In non hereditary cases of retinoblastoma, both genes become mutated.
Retinoblastoma is commonly found during routine screening in high risk children, specifically newborns that have other family members with retinoblastoma. Other infants are diagnosed when they are found to not have a red reflex (or red eye) during a routine well baby checkup or if the child's eyes appear different in a photograph. Instead, they have leukocoria (cat's eye reflex) or a white pupillary reflex. Later symptoms can include redness or inflammation of the eye, strabismus or abnormalities of the pupil.
Further evaluation and testing include an evaluation by a pediatric ophthalmologist and an ultrasound or CT scan of the eye. Other testing may also be required if it is though that the tumor has spread outside the eye.
Retinoblastoma can be either unilateral, affecting only one eye, or it can be bilateral, affecting both eyes.
Treatments depend on the size of the tumor and whether vision can be preserved, and can include laser photocoagulation or cryotherapy, external beam radiation, multi drug chemotherapy, or in some cases, surgery or enucleation (although this isn't routinely recommended anymore) if the tumor is very advanced or if vision can not be preserved. .
Outcomes are in general very good, especially if the retinoblastoma is only affecting one eye.
Children with retinoblastoma are also at risk of developing secondary malignancies, especially osteosarcoma, a malignant bone tumor that can present with pain and swelling of the affected bone or joint.
Retinoblastoma Internet Resources:
- Retinoblastoma: from the Eye Cancer Network, an extensive review of symptoms and treatments of retinoblastoma, with pictures of leukocoria.
- An Overview of Retinoblastoma: an overview of retinoblastoma from Cancer Net, including stages of retinoblastoma and treatments, plus genetics, causes, risk factors, and prevention.
- The Retinoblastoma Society: A national charity offering support and information to people with retinoblastoma and their families.
- retinoblast: Retinoblastoma discussion group for anyone to ask questions, seek advice and get opinions from other affected people and their families.
- Children's Cancer Web Retinoblastoma page: Information about retinoblastoma, plus listings of organizations and support groups, and other resources.
- Family Village Retinoblastoma page: where to go to chat with others about retinoblastoma, how to learn more about it, plus personal stories, web sites, and international & non-english resources.
- Retinoblastoma An Eye Cancer: In this section of the Retinoblastoma Resource Center from the American Cancer Society, you'll find an introduction to cancer, an overview of Retinoblastoma , and related Retinoblastoma statistics.