Imagine the shock. You are playing with your child and as you look into their eyes, you catch sight of a white reflex. Similarly, it may be that you are looking at the photos in your phone and you start to see that one eye is again showing a white reflex. It is hard to imagine, let alone describe, the feelings that go through a parent's mind when they realise there is something wrong with their child, particularly something that could affect their eyes and vision. This is especially so when we are talking about retinoblastoma which is one of the causes of a white reflex or white mass seen in an eye. This white mass or reflex is the result of a tumour being present in the back of the eye. Although this is a relatively rare condition, affecting approximately one in fifteen thousand live births, the seriousness of the diagnosis has led to recent publicity about the importance of following up on any potential concerns. A story on Channel Seven News in Sydney highlighted a new app that goes through the photographs in your phone, looking for a white reflex in your child's eye. Fortunately, it is not always bad news and another more common cause of the white reflex can simply be that the light is bouncing off a healthy optic nerve head in the back of the eye. Of course, it is always appropriate for a child to be reviewed by an eye specialist if there is any cause for concern.
Retinoblastoma is the most common eye cancer in children. It does not discriminate in gender or race, and its incidence is the same in every population around the world. Although this is a unifying factor for all patients with retinoblastoma, the thing that sets populations apart across the world is inequality of access to health care and health professionals. In first world and high income countries such as Australia, we have healthcare in place which has led to an almost 100% survival rate for children with retinoblastoma. In low and middle income countries, the mortality rate is 70%. Given that retinoblastoma is a relatively rare condition and that care is very specialised around the world, considerable effort is put into trying to bridge this gap. Unfortunately, we are a long way from offering every child in the world the same outcome.
Retinoblastoma usually presents very early on in a child's life, either in infancy or before four years of age. The tumour arises in the retina, which is like the film at the back of the eye, akin to the film in an old-fashioned camera. The film develops the image of light that enters the eye being focused by the cornea and lens, and then sends that via the optic nerve to the brain. There are millions of cells in the retina that are growing and dividing very early on in life and it is this massive cell division that leads to the potential for tumours arising. Retinoblastoma can happen in two distinct ways genetically. The tumour arises when you lose a copy of your tumour suppressor gene. Usually there are two in each cell, one from the father and one from the mother. It may simply be the case of extreme bad luck, that, as a cell was dividing, this gene was lost and then abnormal development or cancer grows as a result. This is a sporadic mutation which then leads to children presenting usually over two years of age. Conversely, you may have failed to have one tumour suppressor gene at conception and therefore every cell in the body is missing this vital defence mechanism. These children therefore present much younger with tumours typically in multiple locations and affecting both eyes.
The treatment for retinoblastoma is very specialised and requires a multi-disciplinary approach between the treating ophthalmologist, the paediatric oncologist and other disciplines that may be needed for treatment. Typically, the treatment involves chemotherapy which can be delivered systemically to the whole body or, at times, it can be delivered directly into the artery or via injection directly into the eye. Focal treatment can also be used, including freezing therapy to the tumour or laser therapy to physically destroy the tumour. Regardless, these children need intensive monitoring and frequent trips to theatre to have examinations under anaesthesia. Sometimes these treatments are not enough and the appropriate thing to do is to remove the eye itself. Although always a heart-wrenching decision to make for everyone involved, the prospect of saving a child's life of course puts this into very sharp focus. Again, we are fortunate that we have the people and facilities in Australia to offer a positive outcome.
So, if you are worried that there could be something wrong with your child's eye, and you notice a white reflex either directly or in a photograph, please make sure that you seek expert advice.
Dr Michael Jones
Head of the Department of Ophthalmology
The Children’s Hospital at Westmead
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