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pediatric eye exams catch retinoblastoma early

Retinoblastoma is a type of eye cancer that develops in the retina, an inner layer of tissue at the back of the eye that is made up of light-sensitive cells. It develops early in life, making it the most common type of eye cancer in children.  

As with any cancer, early detection is the key to the least invasive and more successful treatment options.  

Symptoms of Retinoblastoma 

Most cases of retinoblastoma begin in-utero when the retina is forming in the developing baby, although some retinoblastoma cells begin to multiply into cancer cells later on (more on that below).  

Parents or a physician may notice: 

  • Eyes that appear to be looking in different directions (this is also a symptom of lazy eye, which is in no way related to cancer, but is another reason why parents should schedule an appointment with a pediatrician or optometrist ASAP) 
  • Redness of the eye 
  • Swelling of the eye  
  • Unusual whiteness in one or both eyes caught in camera flashes (called the “cat-eye” reflex) 
  • Blindness or poor vision in one eye (in children you may notice squinting, winking, or constant blinking to focus) 

Any of these symptoms should be brought to the attention of your pediatrician or optometrist. All of them are just as likely to be related to something other than retinoblastoma, but they are still a sign that something needs to be addressed, so never put on scheduling an appointment. 

In most cases, retinoblastoma is 100% curable but early attention is key.  Failure to treat cancer early on can result in the loss of one or both eyeballs, resulting in permanent blindness, and the spread of cancerous cells to other parts of the body. 

Types of Retinoblastoma  

Almost all retinoblastomas come down to a malfunction of the RB1 gene. That is the gene responsible for cell multiplication. Any errors in the RB1 gene make individuals more prone to developing cancer throughout their lifetime. Genetic testing is the quickest way to determine whether or not that is the cause of your child’s retinoblastoma case. 

Congenital (inheritable) retinoblastoma 

This type of retinoblastoma usually is not inherited from either parent as you might think from its name, and is responsible for about 1/3rd (one-in-three) of retinoblastoma cases. Instead of an inherited mutation, the RB1 gene mutates somewhere during embryonic/fetus development.  

Also, the RB1 mutation that causes congenital retinoblastoma isn’t restricted to the retinas. The gene mutation is present in every cell of the child’s body, which makes him/her at higher risk for developing other cancers in the future, most particularly a type of brain cancer affecting the pineal gland. 

Congenital retinoblastomas usually show up very early in an infant or young child’s life. And, because of the increased risk of cancer, later on, annual or bi-annual exams and screening tests are recommended to catch potential future cancers early on.  

Sporadic (non-heritable) retinoblastoma 

This type of retinoblastoma is also related to the RB1 gene, but the mutation is retina-specific. It accounts for 2/3rds of all retinoblastoma cases and is more likely to show up when the child is slightly older than those with the congenital (inheritable) type. 

While early diagnosis and treatment are important, children with sporadic retinoblastoma do not have a higher risk of developing cancer than children without the condition since the cell mutations are restricted to the retinas. 

Diagnosis and Treatment 

Cancerous cells in the retina will continue to multiply until they fill the eye cavity, which causes swelling, irritation, and redness as well as discomfort in the more advanced stages. If left untreated, babies and young children with retinoblastoma can develop glaucoma 

And, of course, as is the case with almost any cancer or tumor, cancerous cells continue to grow and spread or multiply into other tumors, that go on to affect other parts of the body. 

Referral to an ophthalmologist 

If your pediatrician or optometrist believes your child has retinoblastoma, s/he will immediately refer you to an ophthalmologist. At your appointment, the ophthalmologist will determine whether or not your child has retinoblastoma and whether the cancer is affecting any other tissues in and around the eye. 

In addition to appointments with your ophthalmologist, s/he may also refer you to an oncologist or a genetic counselor for further evaluation and input. The very good news is that when caught and treated early, retinoblastoma is almost always curable. 

Treatment for retinoblastoma varies  

The type of treatment (or combinations of treatment) recommended for your child’s case depends on the tumor and whether it has spread. Options include: 

Chemotherapy 

Chemotherapy uses medications that travel through the body to kill cancer cells. When enough of the cancer cells are killed off by chemotherapy, it can optimize the chances of success for other treatments.  

Radiation 

Radiation uses a directed form of radioactive energy directly at the cancerous cells. Sometimes radiation is done by placing a small radioactive disk inside the eye to release radiation and kill the cells (anticipating the return of healthy cells). Other times this treatment is administered from outside the body using a precisely focused beam that directly hits the tumor. 

Laser therapy 

Laser therapy is used to attack the blood supply to cancerous cells. Sometimes, if we can kill the tumorous cells’ blood supply, the tumor itself is killed off. 

Cryotherapy (cold treatments) or heat treatments 

We may be able to use cryotherapy, which freezes the cancerous cells. Repeated treatments that repeatedly freeze and thaw cancerous cells can wipe them out. Heat treatments work similarly but using highly targeted heat to kill the cancer cells. 

Surgery (enucleation) 

If a tumor is simply too big or is not responding to other treatments, your ophthalmologist may recommend surgery to remove the eyeball. This prevents any spread of the cancer cells to other parts of the body. An artificial eyeball is then replaced in the socket. Over time, we’ll replace these implants to accommodate your child’s growth cycles, until s/he is full-grown.  

The American Academy of Optometry (AAO) describes the process as: 

After removing the eyeball, the surgeon places an artificial eye implant in the eye socket. The eye’s muscles are attached to this implant. Eventually, the eye’s muscles will move this eyeball just as they did with the natural eye. However, the implanted eyeball cannot see. 

Several weeks after surgery, a custom-made artificial eye can be made to match the healthy eye. This new eye clips onto the eye implant and sits right behind the eyelids just as the natural eye does. Again, this eye will not see. However, it will look and move like a healthy eye. 

If only one eyeball needs to be removed, your child’s brain will adapt more quickly than you can imagine seeing out of the remaining eye. If both eyeballs need to be removed, your child will be blind, and we will be with you every step of the way to get all of the support s/he’ll need to lead a healthy, active, and independent life. 

Are you looking for a family-friendly ophthalmologist to treat retinoblastoma? Schedule a consultation with us here at Atlantic Eye Institute. 

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