How is it diagnosed ?

A detailed eye examination by an ophthalmologist (eye specialist) is required for the diagnosis of retinoblastoma. 

Diagnostic tests such as a CT (computed tomography) scan are useful in confirmation of a diagnosis and to see the extent of the tumor. CT scans show the presence of calcification in the eye in retinoblastoma. A CT scan also helps to check whether the tumor has spread to the eye’s nerve (optic nerve) and orbits (the eye’s bony cavity).

Other diagnostic tests include ultrasonography of the eye, MRI, ultrasonography of the abdomen (to check whether it’s spread to the liver).

Genetic studies are necessary to know whether the tumor is hereditary and are performed on the tumor cells after removal or on blood cells. These studies are also performed in parents and siblings. They may also reveal the presence of a mutation.

Once the diagnosis of retinoblastoma is complete, the doctor determines the extent of the cancer and whether it has spread to other parts of the body. Knowing the stage helps the doctor to plan the best treatment for the child and also preserve the eye.