Blindness in children – searching for genes

Introduction

Dr Lily Islam is a talented doctor who trained at Cambridge University. While working with blind and partially sighted babies at Great Ormond Street Hospital, she became determined to find better ways to tackle childhood blindness.

It’s often unclear exactly what causes children’s eyesight problems, making it difficult to identify the best treatment. Dr Islam is searching for genetic changes that can cause blindness. Her work will give parents invaluable information on why their child is blind and how the condition may be inherited in their family. It may also lead to better treatments.

I’m delighted – and very grateful – to receive this fellowship from Action Medical Research. With this support, I can search for genetic changes causing blindness in children, and work towards better treatments for saving their sight.

Dr Lily Islam

Back to contents

The problem

Devastating blindness in babies

Around 24,000 children in the UK are blind or partially sighted, with many having vision problems from an early age.¹ ‘At least four of every 10,000 children born in the UK will suffer the tragedy of being diagnosed as severely visually impaired or blind by their first birthday,’ says Dr Islam.²

‘Blindness affects all aspects of a child’s daily life, including the basic skills of caring for him- or herself, getting around, learning, playing and making friends. What a child can see contributes significantly to his or her developmental progress in early life, and to his or her ability to communicate with others, and form relationships, in later life.’

Parents are affected too, with many feeling vulnerable and isolated. ‘Some parents grieve the ‘loss’ of the sighted child they had hoped to have, and can feel guilty about having these thoughts,’ says Dr Islam. ‘They also face the difficulty of accepting that their child has been born with a disability and will need specialist educational provision.’

A lack of knowledge is hindering treatment. ‘We don’t know the exact cause of many of the eye problems that affect babies, meaning doctors cannot be sure that they are giving the most effective treatment to each child,’ explains Dr Islam

Back to contents

The research

Genetic changes that cause blindness from birth

Scientists have already identified some genetic changes that can cause blindness from birth. Despite this, for many babies who are born blind, it’s still not clear what has caused their eyesight problems. Evidence suggests there are likely to be many more, as yet undiscovered, genetic changes that cause blindness. Dr Islam is searching for some of these changes.

She is focusing on defects that affect the front of the eye, which lead to blindness from birth by causing the cornea – the transparent window at the front of the eye – to go cloudy. She is examining DNA samples from around 40 affected children to search for changes in their genes that can cause blindness. The changes under investigation are called ‘copy number’ changes, which involve deletion or duplication of genes.

‘It’s obvious to me how vital this research is for children and their families,’ says Dr Islam. ‘I’m very lucky to have the support of fantastic supervisors and of the wonderful families at Great Ormond Street Hospital, many of whom have told me how keen they are to take part.’

Back to contents

Who benefits

Explaining why some children are born blind

Dr Islam hopes to reveal more of the genetic changes that can cause blindness from birth. Initially, this could improve diagnosis of the conditions that cause vision problems in babies.

‘If I find the genetic change that causes blindness in a particular child, I can offer accurate genetic counselling to his or her family,’ explains Dr Islam. This can be extremely valuable to parents – explaining why their child is blind and whether they could pass the condition on to any future children.

Longer term, Dr Islam’s work could also improve treatment: ‘We could go on to look at how well current treatments, such as corneal transplants, work for children with a particular genetic change, to help us to select the best treatment for each child.’ Her work could also help in the development of new therapies.

Making a difference

This fellowship will also help talented Dr Islam help reach her goal of working as both a doctor and researcher. ‘I started a career in medicine in the hope of making a positive difference to the lives of children. To achieve this would be incredibly fulfilling, but also sobering – any step forward is a reminder of how much more there is to do.’

Back to contents

References

1. Keil S and Clunies-Ross. RNIB Research Report: Educational provision for blind and partially sighted children in Britain in 2002. (RNIB; 2003)
2. Rahi JS and Cable N, on behalf of the British Childhood Visual Impairment Study Group. Severe visual impairment and blindness in children in the UK. Lancet 2003; 362:1359-65

Back to contents