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Retinoblastoma Symptoms and Diagnosis in Children - Oren Zarif - Retinoblastoma


Retinoblastoma is the most common type of intraocular malignancy in children. Nearly 90% of cases are detected before the child turns three years old. Retinoblastoma can occur bilaterally or unilaterally. The presenting symptom is white pupil, which can be seen in photographs. About 30% to 40% of retinoblastoma cases are associated with germline mutation of the RB1 gene, which is also associated with increased risk of developing secondary nonocular tumors. In resource-rich countries, the survival rate is 99%, whereas in developing countries, patients typically present with extraocular extension of the disease or metastatic disease.

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Retinoblastoma treatments are based on the stage of the disease, the type of treatment the cancer has spread to, and whether the tumor has spread to other parts of the body. It can also spread to the eye's tissues or to the central nervous system. Treatment options for this type of cancer vary widely, and the most effective one depends on the stage and risk group of the patient.

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Children who have been diagnosed with retinoblastoma should undergo regular eye exams. They should have these exams at least once a year until they reach the age of one, at which point the exams should become less frequent until they reach the age of five. A general anaesthetic may be required. The doctor may also perform other tests to confirm the presence of tumors in the eye.

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A physical examination and imaging tests are used to diagnose retinoblastoma in children. The child's retina will be examined under a magnifying glass. A CAT scan and ultrasound can also be performed. The child's hearing will also be tested. Occasionally, a newborn hearing screen will be used to screen for this cancer. If your child's vision is affected by retinoblastoma, your doctor will recommend treatment.

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Retinoblastoma warning signs include redness, swelling, pupil dilation, and sensitivity to light. If you or a child exhibits any of these symptoms, contact an eye specialist for a thorough exam. Your healthcare professional will perform a red reflex test, which involves shining a light directly into the eye. Unfortunately, this test is not possible over a video call.

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Retinoblastoma patients often have a white pupil reflex, which is very different from the red-eye effect in flash photographs. While cat's eye reflex is often a symptom of retinoblastoma, it is not always the case. It is essential to see an ophthalmologist as soon as possible if you suspect the presence of retinoblastoma in your child.

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Retinoblastoma symptoms are similar to those of other eye diseases. The main difference between them is the mutation in the RB1 gene. It is located on chromosome 13 at position q14.1-q14.2. The RB1 gene, in turn, codes for the protein that acts as a tumor suppressor. When the protein becomes abnormal, it stops the growth of cells and promotes cell death.

Retinoblastoma is an eye cancer that affects children under four years of age. It typically occurs in one eye, but can also affect both eyes. The disease can be hereditary.

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Approximately 60% of cases of retinoblastoma involve one eye, although it can affect both eyes. Patients with bilateral retinoblastoma are also at risk for osteosarcoma.

Retinoblastoma is hereditary, meaning that it can occur in either parent. However, up to fifteen percent of cases of unilateral retinoblastoma are hereditary. If you or a loved one has the mutation in the RB1 gene, you could pass it on to your child. Retinoblastoma may be hereditary if it happens in the egg or sperm before conception.

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Hereditary retinoblastoma is hereditary in nature. It's associated with a mutation in a gene that controls eye development. Hereditary retinoblastoma patients typically develop the cancer in both eyes. In addition to affecting both eyes, affected children may develop other types of cancer outside of the eye, such as osteosarcoma and aggressive skin cancer.

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Once diagnosed, your child will undergo periodic checkups to monitor progress. This may include an eye exam under anesthesia and follow-up visits with a pediatric oncologist. Surgery may be necessary if the cancer has spread beyond the eye. In either case, the eye may have to be removed. Although treatment for retinoblastoma can lead to blindness, early diagnosis is essential to the success of a patient's treatment.

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