Retinoblastoma is a rare type of cancer, but it is one of the most common types of eye tumors that develop in early childhood. Children below the age of 5 are typically at risk, although the condition can also occur in adulthood. This cancer develops in the eye’s retina, a specialized tissue that detects light and color, situated at the back of the eye. In most cases, the disease only affects one eye, but one of three children with the condition usually develops cancer in both eyes.
A common first sign of this eye cancer is visible whiteness in the pupil. Also known as leukocoria or “cat’s eye reflex”, this unusual whiteness is especially noticeable when taking photos with flash. Other symptoms of the condition include eyes that don’t point in the same direction or strabismus, crossed eyes, redness, irritation, persistent eye pain, and poor vision or blindness in the affected eye or eyes.
When diagnosed early, retinoblastoma has a high chance of being cured. However, prompt treatment is critical as the cancer can spread beyond the eye. Advanced forms of retinoblastoma can be life-threatening.
When retinoblastoma is linked with a gene mutation in the body’s cells, it is referred to as germinal retinoblastoma. People suffering from this form of the cancer have increased chances of developing other cancers outside of the eye. They are particularly more susceptible to cancer of the pineal gland or pinealoma, cancer of the bone known as osteosarcoma, soft tissue and muscle cancers, and melanoma, which is one of the most aggressive forms of skin cancer.
While retinoblastoma commonly occurs in children, it may also occur at any age. The condition also comes in heritable and non-heritable forms and a child may be thought to have a heritable condition when he or she has a family history of the disease, has a mutation in the RB1 gene, or has more than one tumor in the eye or both eyes.