Diagnosis difficulties – a father’s success

Three years after complaining that his child was not diagnosed with aniridia until she was a year old, a dad has spurred change that could prevent it happening to others.

Fuad’s campaign has led to the NHS recognising that in the standard “red reflex” test at 8 weeks old, black and Asian children with eye problems may have a different result to white children. They may have an orange rather than red tint to their eye.

The Evening Standard reports that “a spokesman for the Newborn and Infant Physical Examination programme said Mr Mohammed had raised the issue that the test might be harder to interpret in babies from certain ethnic groups with more pigmented retinas. He added: ‘We are finalising an online training package for clinicians and thanks to Mr Mohammed we have included information about this.’”

The red reflex test is usually performed using an ophthalmoscope which is a handheld device which shines a light into the patient’s eye and allows the doctor to see a magnified view of the back of the eye. Initially the doctor is about a foot away from the patient which allows them to view both eyes and compare the red reflex in both then they can move closer to get a more detailed view of each eye.

The light used is a white light from a typical bulb. The issue of colour relates to the colour that the back of the eye appears to be during the test. The retina will appear to shine red which gives the test it’s name. This is the same effect which causes ‘red eye’ in photographs. Black and asian patients are likely to have more pigmentation in their eyes including in the back of the retina which can cause the reflection from the retina to look a paler more orange colour.

When a doctor is performing a red reflex test they are looking for a strong, clear red glow from each eye. Warning signs of a problem can be if the two eyes do not look the same (can indicate amblyopia), if there is no reflex,a white reflex (can indicate cataracts), or a white spot (can indicate retinoblastoma). If any of these symptoms are seen the doctor is likely to refer the patient to an ophthalmologist. If doctors are not aware that the red reflex may look paler in black and asian children then they may not be able to properly interpret the results of the test and make an appropriate referral.

Aniridia Network UK Chair Katie said “In our opinion the red reflex test is probably not that useful in directly diagnosing aniridia. The pupils are normally dilated before performing the test to allow more of the retina to be seen. This could mean the doctor will be less likely to notice that an aniridia patient’s pupil is already fully dilated due to the lack of iris. However, the test does pick up on other eye problems such as cataracts and amblyopia which are quite common in children with aniridia. Hopefully this new guidance will lead to a quicker diagnosis for black and Asian infants with many different eye conditions.

She added “We were delighted to have Fuad’s daughter Shakila and her mother at the Aniridia Network UK Conference 2013 in London and hope to help them more in future.”

About Aniridia Network

A charity support group for people with the genetic visual impairment aniridia and their families in the UK and Ireland. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. First registered as a charity in 2011 and fully in 2018.
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