Retinoblastoma - Eye Cancer

Submitted by jacksonn1 on Sun, 03/19/2023 - 11:44

Retinoblastoma is a rare type of eye cancer affecting the retina of the eye. Unfortunately, this is a common form of cancer found in very young children, generally under 5 affecting one or both eyes. It is rarely seen in adults.

This form of cancer is often inherited in an autosomal dominant pattern, so only one parent needs a copy of the mutated RB1 gene for it to present itself in the child. Those with the inherited form tend to develop the disease earlier on and it is seen in both eyes. Nonheritable retinoblastoma is caused by mutations in the RB1 gene that occurs by chance after birth and has nothing to do with parental genetics. This version usually observes cancer in one eye.

Signs and symptoms of this disease include an unusual white reflection in the pupil (pictured above), a squint, a change in the color of the iris, an inflamed eye, and poor vision. The white reflection might be indicative of possible tumors present on the retina.


To diagnose retinoblastoma, a doctor may perform a red reflex test to see what color the retina reflects. If it reflects red it is healthy, reflecting white would present issues. An ultrasound scan may also be used to visualize the interior of the eye. Doctors may recommend genetic testing to determine what kind of retinoblastoma the child may have and to inform them of other increased risks that are possible. 

There are many treatment options for this form of cancer which are dependent on whether the tumor is intraocular (within the eye) or extraocular (spread out from the eye). Generally for small, localized tumors laser treatment or freezing treatments may be used to remove the tumor. To treat larger tumors, brachytherapy (small radioactive plates stitched to the tumor to destroy it), chemotherapy, or eye removal may be used.