Applying epidemiology to understand visual impairment in childhood

UCL epidemiological research into childhood visual impairment has transformed understanding of the population characteristics and burden, outcomes and impact of childhood visual impairment in the UK. Changes have resulted to the UK Child Screening and Surveillance Programme, the management of specific conditions, and the assessment and planning of services.

Two out of every 1,000 children in industrialised countries have visual impairment in both eyes, with up to 5% more having significant sight impairment in one eye. Most are affected from birth, with lifelong consequences for their wellbeing, curtailed occupational and social prospects, and high economic costs for affected individuals, their families and society.

Professor Jugnoo Rahi (UCL Institute of Child Health) has established an integrated and innovative programme on childhood visual impairment which encompasses classical, lifecourse, and genetic epidemiology and health services research. This has transformed understanding of the epidemiology, outcomes and impact of childhood visual impairment in the UK and established several clinical networks (most with 150+ consultant ophthalmologists) to rapidly bring findings into practice and policy and thus to children with these impairments.

The review and [Professor Rahi's] other contributions, have allowed us to strengthen and improve screening where there is evidence to support it, while we have been able to cease screening at ages when there is no benefit to be had. - Clinical Director of the Newborn and Infant Physical Examination Programme

This research has included a series of national studies of all-cause visual impairment and of the most common treatable childhood ophthalmic disorders. These provided the first population-based data on the frequency, distribution and natural history of individual disorders and unbiased assessment of effectiveness and safety of treatments. This research has shown for the first time that there are major variations in risk of eye disorders, e.g. by socio-economic status, ethnicity, birthweight and other early life factors and demonstrated a growing and increasingly complex population at risk.

The work has had particular impact on the treatment of congenital cataract - the most common surgically treatable cause of childhood visual impairment worldwide. This research was conducted through the British Congenital Cataract Interest Group, comprising over 150 ophthalmologists, established by UCL in 1995. The network has meant timely implementation of findings to improve clinical practices and provide better information for parents of affected infants. For example, during ongoing research on intraocular lens implantation, the network helped to spread use of standardised data collection forms, improving the ability to assess outcomes nationally.

More broadly, this research has influenced how visual impairments in children are identified, and helped to develop better services. Specifically, findings provided the first robust evidence base for the UK National Screening Committee's policy on universal childhood vision screening and surveillance, including ending examinations at ages where Professor Rahi showed there is no benefit to be had. This has led to the revised programme and standards for the Newborn and Infant Physical Examination Programme. including ending examinations at ages where Professor Rahi showed there is no benefit to be had. More recently UCL researchers completed a commissioned systematic review for the National Screening Committee which formed the basis of their 2013 policy review of the content and timing of vision examinations for children aged 4-5. Professor Rahi helped to develop Quality Standards for Paediatric Ophthalmology on behalf of the Royal College of Ophthalmologists. These quality standards are now in regular use in clinical practice. More recently, in 2012, she contributed to the first eyes/vision topic in the Atlas of Variation in Healthcare for Children and Young People which allows clinicians, commissioners and service users to identify priority areas for improving outcome, quality and productivity.

Professor Rahi's research on the needs and experiences of families of newly diagnosed visually impaired children, informed the implementation of a novel regional-level 'key worker' service, the Great Ormond Street Hospital Ophthalmology Community Link Team, which provides information, support and liaison to families of visually impaired children and is now considered a model of key worker provision. Following on from this, the group established a programme developing questionnaires that children could self-complete to assess their quality of life and function, so as to include these patient reported outcome measures (PROMs) in assessment of treatments and services. This included, for example, working with pupils at the Visual Impairment Unit at Exhall Grange, a specialist school in Coventry, to develop a quality of life instrument. The experience of participating in the focus groups, the school's official reported, led to broad discussions amongst the children about living with visual impairment, and led to an Ofsted-commended initiative to host a regular forum for visually impaired pupils.

In 2012, Professor Rahi contributed to the first Atlas of Variation in Healthcare for Children and Young People which allows clinicians, commissioners and service users to identify priority areas for improving outcome, quality and productivity.

Funders included the Guide Dogs Association, Fight for Sight, NIHR Biomedical Research Centres at Moorfields and at Great Ormond Street Hospitals, The Ulverscroft Foundation and the Medical Research Council.