University of São Paulo: Retinoblastoma is a childhood cancer caused by a genetic defect inherited from the parents.

Suddenly, out of nowhere, you notice a white spot in your baby’s eyes on contact with light or when taking a picture. This is a sign of retinoblastoma, a genetic defect characteristic of this childhood cancer. In the United States, the disease affects one in every 20,000 live births; in Brazil, it is estimated that there are 200 to 300 cases per year, cites the ophthalmologist Rodrigo Jorge, head of the Division of Ophthalmology and the Sector of Ocular Oncology at the Hospital das Clínicas at USP in Ribeirão Preto. According to him, “for the child to have the disease, it is necessary to acquire an alteration in the RD1 gene, which is found on chromosome 13, and it is necessary to have an alteration in the gene inherited from the father and mother”. Depending on the origin of the modification, it is possible to have germline or inherited retinoblastoma, which appears from the embryo in the child’s life.

All cells have a genetic defect and this one can affect both eyes. Sporadic retinoblastoma occurs during development, it may even be in utero. The defect is present only in the retina and in only one eye. There is also the possibility of trilateral retinoblastoma, which can affect both eyes and also a gland within the brain called the pituitary. “It is very rare and affects 2% to 3% of cases”.

Unilateral or sporadic retinoblastoma accounts for around 60% to 70% of cases, while bilateral or germinal retinoblastoma accounts for around 30% to 40%. Early diagnosis is very important for its treatment, but we still lack in Brazil. According to Jorge, “unfortunately we have some cases where an early diagnosis is not made, making it necessary to remove the eyeball. If there is no proper treatment, retinoblastoma can take over the entire eyeball, the bone box in which it is located. It can also invade the orbit and the central nervous system, giving seeds with metastases that will lead the child to death”.

Three signs can indicate that a child has the disease: one is eye deviation, strabismus. A child who does not accompany an object, a light, a toy, should be taken to the ophthalmologist. The second important sign is that the center of the pupil becomes whitish, or dark, without the red reflection that occurs when taking a photo with a flash. The third indication of the disease is that a child who does not pay attention to colored objects, does not follow the mother’s face, if she smiles and the baby does not smile, is indifferent to small movements and does not perceive light easily. All of these are signs that you need to see an eye doctor. The specialist indicates an easy way to test the child, which “is to cover one of his eyes with his hands and see if he gets angry. If the disability is unilateral,

Once the problem is detected, the child should be referred to a center specializing in the treatment of retinoblastoma. After detection and treatment, the child can lead a normal life, even if there is a need for surgery to remove the eye, in which case the use of a prosthesis helps in its adaptation. Medical follow-up will be constant until the fourth year of age, after which it will be more spaced, depending on the treatment and the degree of injury. The couple that has a child with the lesion should seek genetic follow-up. The child who had the disease may or may not transmit it to their children. It all depends on the type of retinoblastoma she had.

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