What is Retinoblastoma?

Although not very common, Retinoblastoma is the most common eye tumor of childhood. There are approximately 350 new cases diagnosed in the United States per year. Worldwide, 6000 cases per year are diagnosed. 95% of diagnosed cases survive Retinoblastoma and more than 90% keep at least one eye. Retinoblastoma is diagnosed typically by noting a white reflex in the pupil of the eye. It can also present as a strabismus, a red eye, an enlarged pupil, and failure to thrive. Once suspected, the diagnosis can be confirmed by a simple dilated retinoscopic exam, either in the office or during an exam under anesthesia.

Retinoblastoma originates in the retina of the eye. It is caused by a mutation in chromosome 13 on the RB1, which is a tumor suppressor gene. 40% of cases are genetic, even though the family may not know anyone with the gene. Inherited forms are more likely to be bilateral. Many of these cases are also associated with other tumors such as pinealblastoma and neuroectodermal tumors. The survival rate of trilateral retinoblastoma, although less than simple retinoblastoma, has improved greatly over the years.

The treatments of Retinoblastoma include enucleation, or removal of the eye, systemic chemotherapy, insertion of radioactive plaques, intraarterial chemotherapy, laser photocoagulation and cryotherapy. Although the goal of treatment is to preserve life, most treatments also preserve the eye itself. It depends on the extent of the tumor and how aggresive the tumor is on presentation. All siblings of patients with retinoblastoma should be tested by an Ophthalmologist.

Critical to the treatment of this tumor is early detection. If you suspect your child or someone you know has a white pupil, please have the child examined as soon as possible by a Pediatric Ophthalmologist like myself. Retinoblastoma has one if the highest cure rates of all childhood cancers (95-98%). Late detection is associated with a more poor prognosis.

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