Most cancers are diagnosed through a biopsy. During a biopsy doctors retrieve a small piece of suspected cancer tissue for examination under a microscope. Biopsies are typically not performed on retinoblastoma patients, since retrieving cancer cells from the eye can cause the disease to spread.
Instead, retinoblastoma is diagnosed through imaging exams and eye exams.
The first sign of retinoblastoma is often noticed during a regular pediatrician appointment, when the doctor looks for white reflections in the patient’s pupils. This is an early symptom of the disease.
Pediatricians should then refer the patient to an ophthalmologist trained in diagnosing cancers of the eyeball, such as an ocular oncologist, for a full diagnostic exam.
This exam can include:
- Funduscopic eye exam: The pupils dilated so the retina can be examined. The patient may be anesthetized as part of this exam.
- Ultrasound of the eye
- Magnetic resonance imaging (MRI) scan
- Blood tests
- DNA and/or genetic testing. These can be used to tell if the patient has an inherited form of the disease.
If there is a family history of retinoblastoma, young children should get regular screening exams to look for tumors. These exams can find cancer before symptoms have appeared. The earlier the diagnosis, the more likely doctors will be able to save the patient’s life, eye and vision.
Some cases of retinoblastoma can be passed down from one generation to the next. Genetic counseling may be right for you. Learn more about the risk to you and your family on our genetic testing page.
Staging is process doctors use to find out if cancer has spread within the eye or to other parts of the body. Doctors use the information gathered during the staging process to plan a patient’s treatment.
While there are several staging systems for retinoblastoma, learning whether the cancer has spread plays the biggest role in forming a treatment plan. (source: National Cancer Institute)
Stages of Retinoblastoma
The tumor is in the eye only. The eye has not been removed and the tumor was treated without surgery.
The tumor is in the eye only. The eye has been removed and no cancer cells remain.
The tumor is in the eye only. The eye has been removed and cancer cells remain that can be seen only with a microscope.
Stage III is divided into stage IIIa and stage IIIb:
- In stage IIIa, cancer has spread from the eye to tissues around the eye socket.
- In stage IIIb, cancer has spread from the eye to lymph nodes near the ear or in the neck.
Stage IV is divided into stage IVa and stage IVb:
- In stage IVa, cancer has spread to one or more parts of the body, such as the bone or liver.
- In stage IVb, cancer has spread to the brain or spinal cord. It also may have spread to other parts of the body.
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