Diagnosis
If your child has any signs or symptoms of retinoblastoma, see an ophthalmologist as soon as possible. Optometrists commonly handle normal vision problems such as glaucoma, and can prescribe glasses and contact lenses. An ophthalmologist is a medical doctor (M.D.) who handles these same conditions, and can also diagnose more complex diseases of the eye and perform eye surgery. Retinoblastoma is almost entirely diagnosed by the way it looks, so a professional eye exam by an ophthalmologist with specialist training in retinoblastoma is usually needed to diagnose this disease. The doctor will ask you about your child’s symptoms and thoroughly examine his or her vision and eye movement for any abnormalities. The doctor may also perform any of the following procedures:
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Dilated Retinal Examination
The doctor will give the patient medicated eyedrops to dilate (enlarge) the pupil, allowing him or her to see through the lens and pupil to the retina. The doctor will then shine a very bright light into the eye from a headlamp and use a small handheld magnifying lens to examine the back of the eye.
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Ultrasound of the Eye
The doctor will first numb the patient's eye with special eye drops and position an ultrasound probe on the surface of the eye. This probe bounces sound waves off of structures inside the eye. The echoes are then registered by the probe to produce a picture of the inside of the eye.
DNA/Genetic Testing
A doctor may recommend running genetic tests to determine if a child has the genetic mutation that causes hereditary retinoblastoma. Genetic testing usually consists of a blood test, but if the eye has already been removed, genetic testing may be performed on both the eye and the blood. However, this situation is rare and in most cases the doctor will try to save the eye.
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CT Scan/MRI Scan
A computed tomography (CT) scan uses X-rays to produce an image of your body. For a CT scan, you lie flat on a table while a machine rotates around your body and takes X-rays. Magnetic resonance imaging (MRI) uses radio waves and a strong magnet to create clear and detailed images of body parts. Radio waves are absorbed by the body and then released in a certain pattern, which is translated by a computer in order to show “slices” of the body. Doctors also use MRIs to assess cancer spread. Doctors commonly combine CT scans and MRI scans to assess the brain and eyes in children with retinoblastoma.
