Testing for retinoblastoma in children typically involves a combination of physical exams, imaging tests, and biopsies. Physical exams may include a complete eye exam to look for signs of the tumor. Imaging tests, such as an ocular ultrasound, may be used to take pictures of the eye and look for abnormalities. Finally, a biopsy may be used to take a sample of the tissue and examine it under a microscope.
If the physical exam or imaging tests suggest the presence of a tumor, the doctor may order further tests such as a CT scan or MRI. These imaging tests can provide a more detailed picture of the eye and help to confirm or rule out the presence of a tumor.
In addition to imaging tests, a doctor may order a blood test to measure levels of a protein called alpha-fetoprotein. Elevated levels of this protein can indicate the presence of a tumor.
Finally, a doctor may order a genetic test to determine if the tumor is caused by a mutation in the retinoblastoma gene. This test is typically performed on a sample of the tumor itself.
The above tests are all used to diagnose retinoblastoma in children. If the tests indicate the presence of a tumor, the doctor may order additional tests to determine the type and extent of the tumor. Treatment typically includes surgery, radiation therapy, and/or chemotherapy.