Parents are usually the first to notice the symptoms of retinoblastoma in their child and consult their pediatrician. Pediatricians will generally refer any suspected case of retinoblastoma to an ophthalmologist.
Retinoblastomas are visible during an ophthalmic examination, in which the eyes are dilated and the ophthalmologist can see the retina using an indirect ophthalmoscope. The ophthalmoscope can produce a photograph of the tumor or tumors to establish their size and location so they can be monitored.
The ophthalmic examination may be followed by an ultrasound, which can confirm the presence of the tumors and provide additional details about their size.
A CT (computed tomography) or MRI (magnetic resonance imaging) scan is used to look for signs that the tumor has spread beyond the eye.
Once the diagnosis has been confirmed, a child will usually be seen by a pediatric oncologist to rule out cancer elsewhere in the body. The oncologist may use blood tests, a spinal tap, and/or a bone marrow biopsy.
Treatment Options
Radiation can reduce or eliminate the tumors, but it can have harsh long-term effects when used on children. It increases the risk of other cancers later in life, and can also impair the growth of the bone and make the face nonsymmetrical. External beam radiation is no longer performed at the Weill Cornell Brain and Spine Center. However, we do perform local radiation delivered by the temporary placement of a radioactive plaque in the back of the eye because it can be very effective, without the risks of external beam radiation.
Intravenous chemotherapy, given by injection, can shrink the tumors but it does not cure it alone and has toxic effects on the child’s entire body. It is a prolonged process, with treatments taking many months to complete.
Laser treatments and cryotherapy are used to treat small retinoblastomas. Laser treatment uses a pinpoint of light to obliterate the tumor, and cryotherapy freezes the tumor. These treatments are very effective on small tumors, even when multiple, but not on large tumors. Furthermore, when the tumor is located close to the central area of the retina, which drives precise vision, local treatments will compromise precise vision.
Enucleation can cure retinoblastoma and prevent the spread of the cancer, but the prospect of the surgical removal of a child’s eye can be devastating to a family. Despite the emotional effects of losing an eye, for many years enucleation has been the treatment of choice in advanced cases because it is so effective in saving lives. Furthermore, eye prostheses are made to mimic closely the aspect of the other eye so that the aesthetic result will be quite good. (Find out more about Surgery for Retinoblastoma.)
Intra-arterial chemotherapy, which was developed in our center eight years ago, has now become the treatment of choice for retinoblastoma that cannot be cured with local treatments only. IA chemotherapy doesn’t have the system-wide toxicity of standard intravenous chemotherapy and is much more effective in preserving eye and vision. (Find out more about intra-arterial chemotherapy for retinoblastoma.)
Reviewed by: Y. Pierre Gobin, MD
Last reviewed/last updated: July 2023
