A diagnosis of retinoblastoma is made by examining the eyes. A white pupil or strabismus (crossed eyes) will usually be noticed by a parent or pediatrician. Because this disease is relatively rare, children are typically referred to a special ophthalmologist who is familiar with the treatment of retinoblastoma. The child may need to be examined under general anesthesia to define the extent of the tumor in the eye(s) and to record the information in photographs or diagrams. The specialist may also use additional tests to detect tumors. The following tests are commonly used to provide the specialist with a picture of the inside of the eye and the brain:
Children diagnosed with retinoblastoma will require a complete physical examination. If there are any symptoms or abnormal findings, the child may also need additional tests to see if the cancer has spread to other parts of the body. Tests that may be performed include:
Children and families may also be referred for genetic testing and counseling.