Retinoblastoma is a fast growing eye cancer affecting babies and young children. Tumours may form in one eye (unilateral) or both eyes (bilateral), and can spread outside the eye (extraocular retinoblastoma). Rarely, a separate tumour develops in the brain (trilateral retinoblastoma). This cancer typically develops before 3 years of age, and some children are born with tumours.
What Causes Retinoblastoma?
Errors (mutations) on the RB1 gene or MYCN gene cause tumours to form. These errors can be inherited from a parent, but most often occur spontaneously during the baby’s early development. Retinoblastoma is no one’s fault. It is not a curse and is not contagious.
How Common Is Retinoblastoma?
Retinoblastoma affects about 1 in 15,000 live births, and an estimated 9,000 children develop the cancer each year around the world. Due to global population distribution, 90% of children with retinoblastoma live in economically developing countries.
The most common early sign of retinoblastoma is leukocoria, a white glow in the pupil (black circle) of the affected eye, seen in flash photographs. This reflection may be visible to the naked eye in dim light when cancer fills the eye, or in very young babies. Other signs include a squint (misaligned eyes), red, painful or swollen eye. Trilateral retinoblastoma causes a range of symptoms, depending on its location in the brain.
More than 96% of children treated in developed countries survive, but many children lose at least one eye. Even when eyes are saved, most children have severe vision loss.
Without early treatment, retinoblastoma quickly spreads to the brain or bone marrow. Even with intensive treatments, the chance of cure is very small. Globally, 7,000 children die every year due to delayed diagnosis and inappropriate or incomplete treatment. .
Trilateral retinoblastoma is extremely difficult to treat, and most children die within 12-18 months of diagnosis. However, a slowly increasing number of survivors around the world is inspiring hope for children with this pernicious form of retinoblastoma.