RetinoblastomaCommon Diseases
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Retinoblastoma diagnosis
Most cancers are diagnosed by biopsy. During a biopsy, doctors remove a small piece of suspected cancer tissue and examine it under a microscope. Patients with retinoblastoma are usually not biopsied because removing cancer cells from the eye can cause the disease to spread.
Instead, retinoblastoma is diagnosed by imaging and eye examination.
The first sign of retinoblastoma is often noticed at a pediatrician's appointment, when the doctor looks for white reflections in the patient's pupil. This is an early symptom of the disease.
The pediatrician should then refer the patient to an ophthalmologist trained in the diagnosis of eye cancer, such as an ophthalmic oncologist, for a comprehensive diagnostic exam.
This check can include:
Ophthalmoscopy: The pupils are dilated to examine the retina. The patient may be anesthetized as part of the examination.
An ultrasound of the eye
Magnetic resonance imaging (MRI) scan
Blood test
DNA and/or genetic testing. These can be used to determine whether a patient has a genetic form of the disease.
If there is a family history of retinoblastoma, young children should have regular screening tests to look for tumors. These tests can detect cancer before symptoms appear. The earlier a diagnosis is made, the more likely a doctor is to save a patient's life, eyes and vision.
