What is it?
Retinoblastoma is a rare eye cancer almost always diagnosed in children under 5 years old. It starts in the retina—the layer of tissue in the back of the eye that receives light—and can affect one or both eyes. Retinoblastoma is caused by a change or mutation in a gene. The disease can be life-threatening or cause vision loss, but early diagnosis and treatment can stop the cancer from growing and save vision. Retinoblastoma is one of the most successfully treated pediatric cancers today, with a 90% cure rate in the United States. That’s why it’s important to see an ophthalmologist immediately if you notice any signs of the disease.
During the COVID pandemic, two-year-old Kinley had a growing misalignment (strabismus) in her eyes. Luckily, her mom wasted zero time and rushed Kinley to an ophthalmologist, where she was diagnosed with retinoblastoma. Thanks to an early diagnosis and aggressive treatment, Kinley has re-gained some of her lost vision and is now in remission! Read Kinley’s story.
Signs and Symptoms
The most common sign of retinoblastoma is a pupil that looks white (rather than dark or red) when light is shined into the eye. You may notice this in photos of the child taken with flash.
Other signals may include:
· Crossed eyes or one eye that appears to be looking in a different direction
· Eye pain, swelling or redness
· Poor vision or a change in vision
Make an appointment with a pediatric ophthalmologist right away if you observe any of these signs, because they can also be hints of other serious eye problems.
“If you or a family member or friend notice the glow, skip the pediatrician and go straight to an ophthalmologist,” said Carol Shields, MD at Wills Eye Hospital in Philadelphia.
Diagnosis
An ophthalmologist will do a complete, dilated eye exam to diagnose retinoblastoma. They may also order additional imaging tests to see if the cancer is affecting other areas inside the eye. The child will likely need to have an eye exam under general anesthesia; this is necessary to create a precise treatment plan. You may also be referred to other specialists such as a pediatric oncologist, ocular oncologist and/or genetic counselor.
Two Types of Retinoblastoma
Sporadic. In 2 out of 3 children with retinoblastoma, it occurs by chance. In these cases, retinoblastoma affects only one eye. The child does not have an increased risk of developing other types of cancer.
Hereditary. In 1 out of 3 children, retinoblastoma is present at birth (congenital) and 25 percent of the time, the mutated gene was passed on from parents. In these cases, the disease usually affects both eyes and the child has an increased risk of developing other cancers. Recent studies have shown that the younger a child is at diagnosis, the more likely they are to have the hereditary form of the disease.
Treatment
“Advances in chemotherapy and imaging have revolutionized the management of retinoblastoma around the world,” said Carol Shields, MD at Wills Eye Hospital in Philadelphia.
The goal of treatment is to save vision whenever possible. Treatment depends on the size of the tumor and whether or not the cancer has spread outside of the eye. It may include:
- Chemotherapy or cancer killing medicines that may be given into a vein (IV), an artery that feeds the eye (intra-arterial), and/or directly inside the eye (intraocular).
- Cryotherapy or extreme cold used to freeze and kill cancer cells.
- Laser therapy/photocoagulation used to destroy the blood supply to the tumor.
- Thermotherapy or extreme heat used to destroy cancer cells.
- Radiation therapy or beams of energy used to kill cancer cells. In some cases, a small container (plaque) with radioactive material may be placed in or near the tumor.
- Surgery (enucleation) done to remove the eye. The eye socket and eyeball are replaced with an implant and artificial eye.
Genetic Testing
Genetic counseling is necessary to determine whether a child has the hereditary form of the disease and where the gene mutation has occurred. All children with hereditary retinoblastoma have a 50 percent chance of passing the genetic alteration on to their children.
“Genetic testing helps patients and their families protect future generations from inheriting the disease,” explained Dr. Shields.
