White pupil in a child's eye? It could be retinoblastoma.

When you look into a young child's eyes and see something white, a condition you should suspect is present. It is retinoblastoma, a tumor that develops in the retina at the back of the eye and primarily affects children under the age of five.

“The most common symptom is a white pupil,” said Professor Jo Dong-hyun of the Department of Pediatric Ophthalmology at Seoul National University Children's Hospital, explaining the symptoms of retinoblastoma on “Seoul National University Hospital TV. “If you notice a white spot in the eye, it may indicate retinoblastoma. In such cases, a thorough examination is essential.”

A white pupil is particularly noticeable when taking photos of children's eyes. Professor Jo explained.

“When taking a photo with a camera flash, one pupil appears white,” Jo said. Additionally, symptoms such as strabismus, eye pain, and vision loss may occur in cases of retinoblastoma, he added.

If you notice any of these symptoms suggestive of retinoblastoma, it is important to visit a hospital as soon as possible. “As the disease progresses, treatment becomes more complex. If detected early, the tumor is small and can be effectively treated with less invasive methods, including laser therapy,” Professor Jo said.

Retinoblastoma most commonly occurs before the age of five, typically between two and three years old. Although retinoblastoma can occur in adults, the incidence rate is very low. The incidence rate of retinoblastoma is so low that it is classified as a rare disease.

“Retinoblastoma is a disease that affects one in every 15,000 to 20,000 births worldwide. In Korea, about 10 to 15 children are diagnosed with this disease every year,” Jo said.

Retinoblastoma can occur in one eye or both eyes. Professor Jo noted that about three-quarters of children develop it in one eye, adding that it often occurs in both eyes when there is a specific genetic mutation.

The main cause of retinoblastoma has been identified as a mutation in the RB1 gene, which can be either congenital or acquired. “This mutation can be present at birth or develop spontaneously after birth,” Jo explained.

When a white spot is noticed in a child's eye and retinoblastoma is suspected, the first step is to examine the retina to check for tumors. If a tumor is detected, an MRI scan is necessary.

“This test is necessary to determine whether the tumor is confined to the eye or has spread outside the eye. MRI allows us to determine the exact size and extent of the tumor, making this test extremely important,” Jo emphasized.

Additionally, a genetic test is conducted to check for RB1 gene mutations. “In cases where RB1 gene mutations are present, the condition often affects both eyes and has a high recurrence rate, making genetic testing crucial,” he explained.