Anophthalmos, microphthalmos and typical coloboma in the UK: a prospective study of incidence and risk.

Shah, SP; Taylor, A; Sowden, JC; Ragge, NK; Russell-Eggitt, I; Rahi, JS; Gilbert, C; (2010) Anophthalmos, microphthalmos and typical coloboma in the UK: a prospective study of incidence and risk. Investigative ophthalmology & visual science. ISSN 0146-0404 DOI:

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Purpose. Anophthalmos, microphthalmos and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies, which can cause significant visual loss and cosmetic disfigurement in children. This prospective study of children born in the UK, was undertaken to determine the incidence of AMC diagnosed by ophthalmologists and to explore sociodemographic risk. Methods. Recruitment used an established active surveillance system of UK ophthalmologists supported by a new research network of interested specialists. Recruitment proceeded over 18 months starting 1st October 2006. Results. 135 children were newly diagnosed with AMC. Typical colobomatous defects were the commonest phenotype and anophthalmos was rare (n=7). Both eyes were affected in 55.5% of children. The cumulative incidence of AMC by age 16 years was 11.9 per 100,000 (95%CI: 10.9, 15.4). 41.5% of children had not seen an ophthalmologist by three months of age. The incidence in Scotland was nearly double that of England and Wales. Children of Pakistani ethnicity had 3.7 (95% CI: 1.9, 7.5) times higher risk of AMC than white children. There was some evidence to suggest a higher incidence in the more socioeconomically deprived. Sibling risk ratio was 210 (95%CI: 25, 722). Conclusions. This is the first prospective study of AMC and establishes the frequency across the UK. Comparisons with figures quoted in the literature are difficult due to differing study methodologies but the frequency appears to be lower than that quoted for other developed countries. There are geographic and ethnic variations in incidence that warrant further investigation.

Item Type: Article
Faculty and Department: Faculty of Infectious and Tropical Diseases > Dept of Clinical Research
Research Centre: The International Centre for Evidence in Disability
International Centre for Eye Health
Centre for Maternal, Reproductive and Child Health (MARCH)
Centre for Global Non-Communicable Diseases (NCDs)
PubMed ID: 20574025
Web of Science ID: 287097400027


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