Retinoblastoma Diagnosis

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.