Medicines for Retinoblastoma

What it is

Retinoblastoma is a rare type of eye cancer that affects the retina (the light-sensitive layer at the back of the eye). It occurs almost always in young children, usually under the age of five, and is one of the most common eye cancers of childhood, though it is rare overall. It can affect one eye or, less commonly, both eyes. In some children it is due to an inherited genetic change (which can run in families and more often affects both eyes), while in others it occurs without a family history. Because it affects young children who cannot describe visual symptoms, it is important for parents and carers to be aware of the signs. The most well-known sign is an unusual white reflection in the pupil (the black centre of the eye), which may be noticed in dim light or, characteristically, in flash photographs — where the affected pupil appears white or has a white glow, instead of the normal red-eye reflection (this white reflection is sometimes called leukocoria). Another common sign is a new squint (where the eyes do not look in the same direction). Other, less common signs can include a change in the colour of the iris (the coloured part of the eye), a red, sore, or swollen eye without infection, or a deterioration in vision. Retinoblastoma is treatable, and with modern treatment the outlook is often very good, particularly when it is diagnosed early — treatment aims to cure the cancer while, where possible, saving the eye and preserving vision. Because early diagnosis improves the outcome and the chances of saving the eye and sight, it is important that these signs — particularly a white reflection in a child’s eye (including in photos) or a new squint — are checked promptly. The key messages are that retinoblastoma is a rare childhood eye cancer, that a white reflection in the pupil (often seen in flash photos) or a new squint are key signs to check, and that early treatment is often very successful.

How it is treated

Retinoblastoma is diagnosed and treated by specialist children’s eye cancer teams (in specialist centres), and the outlook is often very good, particularly with early diagnosis; the key for families is awareness of the signs and prompt checking. If a possible sign is noticed — particularly a white reflection or glow in a child’s pupil (including in flash photographs), a new squint, or other changes in a child’s eye or vision — it should be checked promptly by a GP or optician, who can refer for specialist assessment if needed. Diagnosis is made by specialist eye examination (examining the back of the eye, sometimes under anaesthetic in young children) and imaging, which confirm the diagnosis and assess the extent. Treatment is planned by the specialist team and depends on the size, position, and extent of the tumour, whether one or both eyes are affected, and the aim of curing the cancer while, where possible, saving the eye and preserving vision. Treatments can include: chemotherapy (given in various ways, including treatments that target the eye); local treatments to the tumour (such as laser therapy, freezing/cryotherapy, or targeted radiotherapy such as plaque brachytherapy); and, in some cases (for example if the eye cannot be saved or the cancer is advanced in that eye), removal of the affected eye (with support and an artificial eye afterwards). The specific approach is individualised, aiming to balance curing the cancer with preserving sight where possible. Because some retinoblastoma is inherited, genetic testing and counselling are offered where relevant, and other family members and future children may be monitored; children treated for retinoblastoma have follow-up. With modern treatment, the outlook is often very good, especially when the cancer is found early. The key messages for families are awareness and prompt action: a white reflection in a child’s pupil (particularly noticed in flash photos), a new squint, or other eye changes should be checked promptly, as early diagnosis improves the outcome and the chances of saving the eye and sight. The reassuring message is that retinoblastoma, though a serious cancer, is treatable and often has a very good outlook, particularly with early diagnosis and specialist treatment.