White reflex in the pupil is a warning sign for retinoblastoma
Benício, a little boy from Penápolis, São Paulo, came home from school complaining that a classmate had thrown dirt in his eye. It's not uncommon for a class of 4-year-olds, his age at the time. However, three days passed and the boy continued to complain to his mother, Diely Geyzier, 29, about the sensation of dirt in his eyes. Outraged, she went to school to understand what was happening, but the teacher told her it had only happened once. As the days passed, however, something caught Diely's attention in her son's eyes. She thought she saw a white reflection that appeared and disappeared quickly. "I even washed it, thinking it might be dirt," she says.
Concerned, the mother scheduled an appointment and told the ophthalmologist about the reflection she saw in her son's eyes. The doctor ordered a retinal scan, and afterward, Diely heard the words that shook her to her core: Benício had retinoblastoma, a malignant tumor in the retina. " I knew the reflection wasn't normal, but I never imagined it was cancer. My world fell apart," adds Diely Geyzier, mother of Benício, who was diagnosed with retinoblastoma at age 4.
The mother was in despair. "I cried for days and imagined the worst," she confesses. The family sought a second medical opinion in another city. "I was so afraid of losing him that I hugged him tightly and didn't want to let go," she says. She had already said goodbye to three other family members due to other types of cancer and feared that her son, still so young, might suffer the same fate.
However, she would do everything she could to help the boy cope with the tumor. Benício began chemotherapy sessions, as well as routine exams, to monitor his progress. Now 5 years old, he continues treatment and has no discharge date yet. But the outlook is good. "He's strong and healthy. The tumor is stable," says Diely, who is also the mother of 2-year-old Bernardo.
What is retinoblastoma?"Retinoblastoma is a malignant intraocular tumor originating in the cells of the retina, the part of the eye responsible for vision. It is the most common malignant intraocular tumor in childhood and can affect one or both eyes," explains pediatric oncologist Ana Paula Kuczynski Pedro of Pequeno Príncipe Hospital (PR).
Cancer primarily affects children under the age of 5. According to the expert, this can be explained by a mutation in a gene called RB1, which occurs during fetal development in the womb. "The normal RB1 gene prevents cells from growing out of control, but the mutation makes this process impossible, thus leading to tumor formation," she points out.
In Brazil, 400 cases like Benício's are diagnosed each year. The issue gained prominence when Lua, the daughter of journalists Tiago Leifert and Daiana Garbin, also entered the statistics at 11 months old in 2022. Today, the girl is 4 years old and doing well, but is also being monitored. The global average incidence is 1 case per 18,000 children, representing 4% of all childhood cancers.
According to oncologist Ana Paula, there are no measures capable of preventing retinoblastoma. "However, early diagnosis, especially through the 'eye test' and regular ophthalmological examinations, is essential to increase the chances of a cure and preserve vision, especially in the hereditary form of the disease," says the oncologist. "When the tumor is intraocular, more than 90% of patients can be cured," she adds.
Early diagnosis saves livesDiely, upon noticing the reflection in Benício's eyes, quickly sought medical evaluation. She was so moved that she decided to launch an awareness campaign on Instagram to alert other families to be vigilant about their children's eyes.
" I want people to have access to information about the disease and to have the right to see an ophthalmologist. Because with an early diagnosis, the chances of a cure are much higher," he explains. "This campaign was born out of pain, but it blossomed into hope, from the love of a mother who decided to act," he explains.
Some signs can help families raise the alarm and seek an ophthalmological evaluation. The main ones, according to pediatric oncologist Ana Paula Kuczynski Pedro of Pequeno Príncipe Hospital, are:
White pupillary reflex: This is the most common sign of the disease. "Normally, when a light is shined into a child's eye, the pupil appears red due to blood vessels at the back of the eye. In eyes with retinoblastoma, the pupil often appears white or pink. The glow is usually seen in photos taken with a flash and can also be observed by the child's doctor during a routine eye exam," says the oncologist.
Strabismus;
Eye pain;
Redness of the white part of the eye;
Bleeding in the front of the eye;
Bulging of the eyes;
The pupil does not constrict (i.e., does not decrease in size) when exposed to bright light;
Irises with different colors.
When suspicions arise, during an ophthalmological examination, the specialist considers the patient's history and performs initial tests, such as those that evaluate the back of the eye. Imaging tests are then performed to help locate and determine the extent of the lesion, such as ultrasound, MRI, and CT scans. Family members may be advised to undergo genetic testing and counseling.
How is retinoblastoma treated?As soon as retinoblastoma is identified, it's important to begin treatment, aiming for a cure and preserving the child's vision as much as possible. "The therapeutic approach depends on the size of the tumor and its spread to adjacent areas, as well as the functionality of the eye," notes the pediatric oncologist.
In general, the work of a multidisciplinary team is recommended, including a pediatric ophthalmologist with experience in retinoblastoma, a pediatric oncologist, and possibly a radiation oncologist.
" In cases of advanced unilateral tumors (i.e., a large tumor with evidence of disease extension in one eye), treatment consists of enucleation, which is the removal of the eyeball," explains the doctor. "In less advanced cases, where vision preservation is a possibility, conservative approaches with chemotherapy and/or local control treatments may be considered," she explains.
When the tumor is bilateral, affecting both eyes, options include laser treatments, intra-arterial chemotherapy (directly into the artery feeding the tumor), or unilateral enucleation and treatments in the other eye. In some cases, targeted radiotherapy and chemotherapy may be indicated.
For parents experiencing situations like hers, Diely makes a point of reminding them that the chances of a cure can reach 90%. "Look into your children's eyes, get follow-ups, and be alert to the signs," she advises, remaining steadfast in her awareness campaign. "My wish is to do whatever is necessary so that everyone receives dignified treatment, like my son," she concludes.
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