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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.
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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.
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.
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%).
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.
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