Retinoblastoma Diagnosis

Pediatric retinoblastoma diagnosis will typically involve several types of testing. When abnormal symptoms are first recognized, the child may be examined by a pediatric ophthalmologist, or children’s eye doctor. If retinoblastoma is suspected, the child will undergo more comprehensive screening techniques. These techniques include diagnostic imaging, such as ultrasound, CT scans, and MRI scans. Additional testing such as blood tests and biopsies may also be ordered.

Retinoblastoma Diagnostic Imaging

Diagnostic imaging is used to create images of the internal structures of the child’s eyes. This way, specialists are able to identify abnormalities and make a proper retinoblastoma diagnosis. Retinoblastoma diagnosis with imaging techniques may use x-rays, sound waves, and magnetic fields to create images of the internal structures of the eye.


Ultrasound is one of the most common diagnostic imaging tests for detecting pediatric retinoblastoma. Ultrasound uses sound waves to create images of the patient’s inner eye. Ultrasound for pediatric retinoblastoma is painless and does not involve any radiation exposure, making it one of the safest diagnostic imaging techniques.

CT/MRI Scans

Computerized tomography (CT) and magnetic resonance imaging (MRI) are types of diagnostic imaging that create detailed images of the body’s soft tissues. In the case of retinoblastoma diagnosis, these tests create images of the eye and its surrounding structures. CT and MRI scans can be used to determine the size and location of retinoblastoma tissues and whether or not they have spread to other areas in the eye.

Retinoblastoma Advanced Testing

When a retinoblastoma diagnosis is suggested by diagnostic imaging techniques, the child may undergo advanced testing to confirm the retinoblastoma diagnosis. Additional testing may include blood tests, biopsies, or a spinal tap. It is important to keep in mind that these advanced testing techniques are not as common, and may only be useful for certain cases of pediatric retinoblastoma.

Blood Tests

Blood tests may be used to look at potential issues with the patient’s kidneys and liver. Blood tests may also be used to observe changes or abnormalities in chromosome 13. Chromosome 13 is a type of cell that contains genes which may indicate hereditary pediatric retinoblastoma.

Bone Marrow Biopsy

Bone marrow aspiration and bone marrow biopsy are two types of tests that can be used to check if the pediatric retinoblastoma has spread to the child’s bone marrow. The bone marrow is the soft innermost part of certain types of bones in the body. Bone marrow aspiration involves aspirating, or sucking out a sample of liquid bone marrow using a hollow, thin needle. Bone marrow biopsy removes a small piece of bone and marrow. The samples collected from both tests are then observed microscopically to check for cancer cells.

Spinal Tap

A spinal tap, also called lumbar puncture, involves taking a fluid sample from between spinal bones. Spinal tap tests are typically only performed when it is believed that the pediatric retinoblastoma has spread to the child’s brain. When this occurs, cancerous cells become present in the cerebrospinal fluid, or fluid that surrounds the spinal cord and brain.


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