In health news, Retinoblastoma is a rare eye cancer that occurs in children, often before age five. Scott Brocato recently spoke with Dr. Claudia Prospero Ponce, a neuro-ophthalmologist and ocular pathologist with Texas Tech Physicians of El Paso, about Retinoblastoma, its symptoms, and treatments available.
Scott Brocato:
What is Retinoblastoma and who does it affect?
Dr. Prospero Ponce:
So, Retinoblastoma is, thankfully, a rare eye cancer that occurs mainly in children, most of them present before the age of five. It affects the retina, and if you think about the eyeball, it's the more inner layer of the eyeball. If you think about a circle, it’s a membrane that is transparent, and that creates the vision so that our brain receptors can see the image. So the retina has abnormal growth and becomes cancerous, and so it is common in the eye of kids, especially when they are very young.
There are two ways to take and get the type of Retinoblastoma. So you can either inherit it, meaning your dad and mom have a gene that went together. They give you that propensity for the cancer. When it is hereditary, you may have it in both eyes. If it is de novo (non- hereditary) mutation that you are born with that you develop, that is usually only in one eye, and it's usually in older kids.
Scott Brocato:
And why does it seem to affect just children?
Dr. Prospero Ponce:
Because it is a hereditary mutation, and the mutations that are hereditary in this type of Retinoblastoma, it grows so fast. So it is diagnosed in early ages.
Scott Brocato:
And what are some of the symptoms?
Dr. Prospero Ponce:
You know, the symptoms can be very mild. But the things that fathers can look for will be, every time that they take a picture, instead of seeing the red of the eyes inside, like in the pupil, they see a white reflex, especially with cameras and pictures. The eye itself, the kids usually don't complain. That's a problem with a diagnosis. It's challenging, because the kids don't really complain if it's only in one eye. They don't really realize they cannot see or they see blurry.
But the symptoms are vision loss. Occasionally, the patient may have eye pain. Patients can have kind of bulging of the eye, and very rarely patients may have inflammation inside of the eye, like blood floating in the eye or cells floating in the eye. But this is very rare, only when the tumor has been too advanced that the eye is completely taken by the tumor.
But in general, the symptoms that the kids complain of are either none, or just vision blurriness. And that's why the diagnosis is so important. And it's mostly done by family members when. They send pictures, they take the family pictures and they realize one eye reflex is just really not normal.
Scott Brocato:
And what is the observed survival rate for children diagnosed with Retinoblastoma?
Dr. Prospero Ponce:
So thankfully, if it is an early diagnosis, the treatment can be an eye salvage. So in general, the tumor that is de nova, and the tumor that is hereditary, there are two different ways to go. Either the genetic mutation is involved in your whole body that you may have cancers not only in the eye, but also in other places of your body. The prognosis is less in the skids, but we do have now chemotherapy that we can provide to these patients. If the cancer or the tumor, retinoblastoma, is only in one eye, then the patient can get treatment for that eye to prevent that tumor from going outside of the eye, and the prognosis is very good on them.
There are different treatments currently that are going to help us for prognosis eventually. The most important step before the treatment is a diagnosis. So the diagnosis, first of all, needs to rule out a mutation. The mutation that is the gene that is mutated is RB1 gene. And there are multiple genetic mutations that are associated with that prognosis that need to be seen with a biopsy, either from the eye, the tumor, depending on how is how extensive it is. And also it can be seen in the blood.
Scott Brocato:
With certain treatments, is full vision restoration possible?
Dr. Prospero Ponce:
Yes, depending on the size of the tumor. If the tumor is caught immediately, and it is only small, then the treatment can save that eye. In the past, Scott, when we had no real advancements, the only treatment they had was to enucleate the eye. Enucleation is one of the treatments that still we do when tumors are all ready to expand inside of the eye, and we are fearful that it's gonna take the brain and other parts of the body. And so we take the tumor off, and then we save the patient from any recurrence.
Now the treatment includes radiation, chemotherapy, bone marrow transplant and, as I said, enucleation. Enucleation is sometimes just really saving a life. Now when the eye has a tumor, that is enough to be removed by chemotherapy.
Over the years, we've encountered amazing treatments that are saving eyes and vision. So what happens is that either the chemotherapy goes inside of the eye by a type of a needle, or they can do inside of the vessels of the nerve. So they will go through the peripheral vein, vessels, and the arteries go right inside into the optic nerve. So the chemotherapy has a way now to be targeted immediately to the eyeball through the optic nerve without getting chemotherapy exposure anywhere else. That's the type of treatment that helps with the recovery of vision and keeping the eye.
Scott Brocato:
Are there any preventative measures that parents can take for their children to avoid or minimize the risk of Retinoblastoma? Or any advice that you can give them?
Dr. Prospero Ponce:
If you have any family member with Retinoblastoma, you should ask them about what type of mutation, and if it is sporadic. That means the kid just had it by chance. But if it is hereditary, all the parents should have the test gene. And the geneticist should inform them if this is something hereditary that they should inform other family members.
It is rather rare to have it in brothers. If I have the tumor, my brothers may have it, but because my parents are giving us the deeds. But it is very rare to see it in uncles or cousins and it spread. But I will really advise any family member who has a member with Retinoblastoma to seek a geneticist consult, to make sure they do not have the gene. Because both parents, when hereditary, they have to have the gene in order to pass it to the kid. Now, prognosis as early treatment and diagnosis, it's a really good survival. We've seen probably survival of around 96%. And in five-year follow-ups after this, kids are alive.
And the most important thing for people to remember: Retinoblastoma is the most common primary eye tumor of kids, and Retinoblastoma running in families can be hereditary. The survival is very good when we have a fast diagnosis and early treatment. It is important to know that not all states have the appropriate treatment institutions. And so I would really encourage everyone to seek for a closest ocular oncology center.
Scott Brocato:
Which you have at Texas Tech Physicians of El Paso?
Dr. Prospero Ponce:
We have a referring center. We currently do not treat Retinoblastoma here. But there are centers around, probably in Houston, that we can send for. The Retinoblastoma centers are very unique and very tailored for kids. We do try and treat other cancers here in El Paso, but there is no irregular blastoma center in El Paso yet. Soon we will see a Cancer Center development in El Paso, which is by Texas Tech, and is going to really include everything. It's not there yet.
