Diagnosis and prognosis
The earlier the diagnosis, the higher the chances are of cure and preservation of visual function. Hence, early screening of all children with the red-eye reflex test and an ophthalmology examination is vital to detect the disease at its earliest stages.
Once the disease is suspected, an ophthalmologist completes the final diagnosis through an eye exam, which is generally performed under anaesthesia. Diagnosis does not require a pathologic confirmation. The ophthalmologist determines the extent of the disease inside the eye and will grade it to facilitate treatment planning. To assess the extraocular and intracranial extension of the disease, a brain and orbit Magnetic Resonance Imaging (MRI) is preferred to a Computerized Tomography (CT scan) at diagnosis. In cases of advanced disease, a bone marrow biopsy and a spinal tap will be done as well. Treatment will be tailored to the stage of the disease, based on the ophthalmologist exam and the extension of the disease outside the eye.
RB survival rate has improved significantly over the past decades. Early diagnosis and less toxic curative therapies have led to an estimated RB disease-free survival rate at 5 years after diagnosis of 95% in most developed countries12. However, chances of cure decrease if treatment is delayed, if the disease is resistant to treatments and progresses, or if the disease is metastatic at diagnosis or has metastasized.