May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
The Epidemiology of Childhood Onset Hereditary Retinal Disorders in the UK
Author Affiliations & Notes
  • E. L. Hamblion
    Institute of Ophthalmology UCL, London, United Kingdom
    Institute of Child Health UCL, London, United Kingdom
  • J. S. Rahi
    Institute of Ophthalmology UCL, London, United Kingdom
    Institute of Child Health UCL, London, United Kingdom
  • A. T. Moore
    Institute of Ophthalmology UCL, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • on behalf of the British Childhood Hereditary Retinal Disorders Network
    Institute of Ophthalmology UCL, London, United Kingdom
  • Footnotes
    Commercial Relationships  E.L. Hamblion, None; J.S. Rahi, None; A.T. Moore, None.
  • Footnotes
    Support  Special Trustees of Moorfields Eye Hospital
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1451. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      E. L. Hamblion, J. S. Rahi, A. T. Moore, on behalf of the British Childhood Hereditary Retinal Disorders Network; The Epidemiology of Childhood Onset Hereditary Retinal Disorders in the UK. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1451.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: : To provide currently unavailable information on the burden and impact within the UK of childhood onset hereditary retinal disorders and about key issues in the assessment and management of affected children. This will be essential to planning future treatment programmes, particularly as therapeutic interventions become more feasible.

Methods: : National active surveillance through the British Ophthalmic Surveillance Unit (BOSU) commenced in August 2006 until February 2008. Ophthalmologists are reporting any child newly diagnosed as having a stationary or progressive hereditary retinal disorder, irrespective of level of visual function and whether the condition is isolated or part of a systemic disorder.Information about each child is sought from the reporting ophthalmologist or clinical scientist at notification using specifically developed data forms. Data collected includes demographic characteristics, presumptive diagnosis and how established, systemic health issues, socio-demographic details, family history, ophthalmic information and management of child e.g. partially sighted or blind registration and educational environment and support. A follow up questionnaire 9 months after diagnosis is used to reconfirm or revise the initial diagnosis, look at progress of the condition and developmental progress of the child.

Results: : To date (12 months of notification) 221 patients have been reported with an age range of 3 months to 16 years, median 5 years. There is an over-representation of those from an Asian ethnic background including Indian, Pakistani and Bangladeshi. A wide range of conditions have been reported: including rod-cone dystrophy (25%), Stargardt disease (9%), other macular dystrophy (7%), congenital stationary nightblindness (7%), and cone-rod dystrophy (6%).

Conclusions: : The study is working very successfully, a higher than expected frequency of cases with a broad range of conditions has been reported from a wide geographic distribution. Differences in the assessment and management practices have been noted with implications for planning future treatment programmes particularly as molecular therapies have become more feasible. Case ascertainment ends in February 2008 from which findings will be discussed in detail.

Keywords: clinical (human) or epidemiologic studies: prevalence/incidence • retinal degenerations: hereditary 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×