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S. P. Shah, A. E. Taylor, J. Rahi, J. C. Sowden, N. Ragge, I. Russell-Eggitt, C. E. Gilbert, SEA-UK Special Interest Group; Congenital Eye Anomalies: An Epidemiological Study in the United Kingdom. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4688.
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Congenital eye anomalies are important causes of childhood visual impairment. Anophthalmos, microphthalmos and typical coloboma (AMC) form a spectrum of eye anomalies of the whole globe. Accurate estimates of magnitude are difficult to determine but are required for implementation and assessment of preventative strategies. The aim of this study was to determine the live birth incidence of AMC in the UK.
The British Ophthalmological Surveillance unit supported by a newly formed UK research network of interested specialists was used to identify children (aged ≤16 years) newly diagnosed by an ophthalmologist with an AMC anomaly in the UK over an 18 month period from October 2006 to March 2008. Children were required to be born in the UK. Thus over 1,100 ophthalmologists with clinical autonomy were actively surveyed on a monthly basis during this period. Socioeconomic status was determined using postcode derived Index of Multiple Deprivation.
Response rate in this study was 96%. One hundred and thirty five children were identified (50.4% male) during the 18 month study period. No gender differences were identified. The annual age specific incidence of new diagnoses of AMC was highest in the first year of life, being 10.4 (95%CI: 8.6-12.4) per 100,000 livebirths with a cumulative incidence by 16 years of age of 11.9 per 100,000 (95% CI: 10.9-15.4). A significantly higher incidence was noted in Scotland than elsewhere in the UK (Relative Rate (RR) 1.9, 95%CI: 1.2, 3.2, p=0.009) and amongst Pakistani children compared to Caucasian children (RR 3.7, 95%CI: 1.9, 7.5, p<0.001). No significant trend was noted with socioeconomic deprivation
Most of the literature in this field of study is derived using data from birth defect registers which are known to have inherent deficiencies. This is the first population based prospective study of these anomalies using active surveillance. Geographic and racial variations in frequency require further study.
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