Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Retinoblastoma (Rb) is a rapidly developing cancer which develops in the cells of the retina, the light sensitive cells of the eye. In the developed world, Rb has one of the best cure rates of all childhood cancers (95-98%), with more than nine out of every ten sufferers surviving into adulthood. Retinoblastoma is a very treatable cancer.
There are two forms of the disease; a genetic heritable form and a non-genetic non-inheritable form. Approximately 55% of children with Rb have the non-genetic form. If there is no history of the disease within the family, the disease is labelled “sporadic”, but this does not necessarily indicate that it is the non-genetic form. In about two thirds of cases, [1] only one eye is affected (unilateral retinoblastoma); in the other third, tumours develop in both eyes (bilateral retinoblastoma). The number and size of tumours on each eye may vary. The position, size and quantity of tumours are considered when choosing the type of treatment for the disease.
The most common and obvious symptom is an abnormal appearance of the pupil. In a healthy eye, the pupil may appear red when captured on a photograph where a flash has been used (Red Eye), whereas on an affected eye, the pupil may appear white or yellow (leukocoria). The yellowy appearance may also be visible in low artificial light and will resemble a cat’s eye.
Other less common symptoms are: deterioration of vision, a red and irritated eye, faltering growth or delayed development. Some children with retinoblastoma can develop a squint, commonly referred to as “cross-eyed” or “wall-eyed” (strabismus).
Should you notice any of these symptoms or have cause for concern, you should visit your general practitioner or pediatrician. If a white eye reflection has been spotted on a photograph, take the photograph with you when you see your general practitioner or pediatrician. Depending on the position of the tumors, they may be visible using an ophthalmoscope to look through the pupil. A positive diagnosis is usually made only with an examination under anesthetic (EUA).
A white eye reflection is not always a positive indication of retinoblastoma and can be caused by light being reflected badly or by other conditions such as Coats’s Disease.
Retinoblastoma is rare and affects approximately 1 in 20,000 births worldwide. In the UK around 40 to 50 new cases are diagnosed each year. Most children are diagnosed before the age of five years old. In the UK bilateral cases usually present within the first year with the average age at diagnosis being 9 months. Diagnosis of unilateral cases peaks between 24 and 30 months.
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