Retinoblastoma (Rb) is a rare form of cancer that develops rapidly from the immature cells of a retina, the light-sensing tissue of the eye. It is the most common malignant cancer of the eye in children, and is found almost exclusively in young children. Although most children survive this cancer, they may lose their vision in the affected eye(s) or need to have them removed.

Nearly half of children with retinoblastoma have an inherited genetic defect associated with retinoblastoma. In other cases, it is caused by a congenital mutation in the chromosome 13 gene, 13q14.

The most common and obvious sign of retinoblastoma is an abnormal appearance of the retina as seen through the pupil, the medical term for which is leukocoria, also known as the amaurotic cat eye reflex. Other signs and symptoms include impaired vision, a red, irritated eye with glaucoma, and stunted growth or delayed development. Some children with retinoblastoma may develop a strabismus, commonly referred to as “crossed eyes” or “wall eyes.” Retinoblastoma presents with advanced disease in developing countries, and enlarged eyes are a common finding.

Depending on the position of the tumors, they may be visible during a simple eye exam using an ophthalmoscope to look through the pupil. A positive diagnosis is usually made only with an examination under anesthesia (US). A white eye reflection is not always a positive indication of retinoblastoma and may be caused by poorly reflected light or by other conditions such as Coats’ disease.

The presence of the red eye of photographic failure in only one eye and not in the other may be a sign of retinoblastoma. A clearer sign is “white eye” or “cat’s eye” (leukocoria).

The priority of retinoblastoma treatment is to preserve the child’s life, then to preserve vision, and then to minimize complications or side effects of treatment. The exact course of treatment will depend on the individual case and will be decided by the ophthalmologist in discussion with the pediatric oncologist. Children with involvement of both eyes at diagnosis usually require multimodal therapy (chemotherapy, local therapies).