Retinoblastoma (RB) is a rare cancer of the eye that typically affects children between birth and five years of age. The incidence of retinoblastoma is 1 in 15,000 live births, with about 23 children being affected in Canada each year.

Retinoblastoma is a complicated disease triggered by genetic mutations in one or more cells of the retina.

Retinoblastoma may be unilateral (affecting only one eye), bilateral (affecting both eyes), or very rarely, trilateral (affecting both eyes, plus an independent brain tumor).  Untreated retinoblastoma is almost always fatal; therefore, early diagnosis and treatment is critical to saving lives, preserving eyes and maintaining visual function.

We are fortunate in Canada to have access to world leaders in the diagnosis, treatment and genetic analysis of retinoblastoma. Consequently, the survival rate in Canada is above 96%.   

Signs and Symptoms

Retinoblastoma is a rare disease. As a result it is highly unlikely that a pediatrician or family doctor will have previously encountered a patient with retinoblastoma. Parents are most often the first to notice the signs and symptoms of retinoblastoma.

The most common indicator of retinoblastoma is whiteness reflected in the pupil, particularly noticeable when the pupil is dialated.  Parents often notice this phenomenon in flash photographs.  Many parents refer to this reflection as “cat’s eye” or “white eye”.  Medically, it is known as leukocoria.

Pediatric ophthalmologists point out that often the first sign of retinoblastoma is a white reflection in the pupil visible in a flash photograph taken in a dimly lit room.  The normal appearance is a uniform red glow in the pupil, when the light from the flash reflects off the retina. They recommend that if parents notice instead a white reflection in one or both eyes in several of such photographs, that they show the pictures to their doctor and seek rapid referral to an eye specialist.  For more information on photographing retinoblastoma, click here.

Other less inidicative signs of retinoblastoma include:

One or both of the child's eyes may turn inward or outward. This is often described by parents as "lazy eye," "crossed eyes," or a wandering eye. The medical name for this is strabismus.

More rarely, a child's retinoblastoma may be indicated by redness and/or swelling of the eye and eyelids(s).

Anyone noticing these symptoms in their child is advised to have it assessed by a medical practitioner as soon as possible.  An eye examination with the pupil of the eye widely dilated is important to rule out the possibility of retinoblastoma.

None of the signs outlined above are conclusive of retinoblastoma.  There are other eye disorders, some very serious, that have similar signs.  As a result, it is important that anyone noticing any of these signs in a child, take steps to have the child properly examined by a health care provider qualified to examine a child’s eye in detail.

Diagnosis