Br J Ophthalmol 96:360-365 doi:10.1136/bjo.2010.201178
  • Clinical science
  • Original article

Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK

  1. Jugnoo S Rahi1,2,3 on behalf of the British Childhood Onset Hereditary Retinal Disorders Network
  1. 1University College London (UCL) Institute of Ophthalmology, London, UK
  2. 2MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK
  3. 3Ulverscroft Vision Research Group, UCL Institute of Child Health & Great Ormond Street Hospital for Children NHS Trust, London, UK
  1. Correspondence to Professor Jugnoo S Rahi, MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; j.rahi{at}
  • Accepted 4 May 2011
  • Published Online First 7 June 2011


Background A prospective, national population-based cross-sectional study to enable understanding of the burden and management in the UK of hereditary retinal disorders presenting in childhood.

Methods Children aged <16 years with a new diagnosis of an inherited retinal disorder made between September 2006 and February 2008 in the UK were identified through two national active surveillance schemes. Clinical and socio-demographic information was collected on each child at diagnosis and 9 months later using standardised questionnaires.

Results 241 patients were reported with 24 distinct diagnoses. 14% had additional systemic disorders and 13% had dual sensory impairment. Annual incidence was 1.4/100 000 children (aged 0–15 years) and the cumulative incidence by age 16 years was 22.3/100 000 children. The most common mode of inheritance was autosomal recessive. A significantly higher rate was seen in males than females (relative rate (RR) 1.53), in children of Asian compared with White ethnicity (RR 7.12) and in those in the worst quintile of socio-economic deprivation compared with those in the best (RR 1.43). Parents most commonly detected a problem with their child's vision. Up to seven different health professionals were involved in a child's early management, and variations were noted in the proportion of eligible children having assessments for low vision aids, statement of educational needs and certification as sight-impaired.

Conclusions These findings illustrate the highly heterogeneous nature of childhood retinal dystrophies and provide previously unavailable data on disease incidence, distributions and management, which are important for service provision and for planning future treatment programmes, particularly as novel therapies become available.


  • Funding ELH was supported by the Special Trustees of Moorfields Eye Hospital and UK Department of Health's NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and the UCL Institute of Ophthalmology. Surveillance carried out in association with the British Ophthalmological Surveillance Unit which receives funding from the Guide Dogs for the Blind Association. JSR is a member of the Medical Research Council's (MRC) Centre of Epidemiology for Child Health and Department of Health's NIHR Biomedical Research Centre at Great Ormond Street Hospital and the UCL Institute of Child Health. The funders had no role in the design or conduct of this research.

  • Competing interests None declared.

  • Ethics approval Ethics committee approval was obtained from the London Multi-Centre Research Ethics Committee (MREC) and the research followed the tenets of the Declaration of Helsinki.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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