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Congenital eye anomaly surveillance in England and Wales. How effective is the national system?
Abstract
Eye is the official journal of the Royal College of Ophthalmologists. It aims to provide the practising ophthalmologist with information on the latest clinical and laboratory-based research.
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To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia.
Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988-94. The population surveyed was all births in England for this time period (4,570,350 births). Cases included live births, stillbirths, or terminations after prenatal diagnosis of congenital anomaly, with anophthalmia/microphthalmia, with or without other malformations and syndromes. Trisomy 13 was subsequently excluded.
The proportion of cases notified by any one information source was not more than 26% (Office for National Statistics Register 22%, paediatricians 26%, district sources 25%). Sixty nine per cent of cases (51% of severe cases) were notified by only one source. A total of 449 cases were reported, prevalence 1.0 per 10,000 births. The prevalence was stable over time, although the proportion notified by clinicians rose in more recent years. Thirty four per cent of affected babies had mild microphthalmia. Of those with severe anophthalmia/microphthalmia, 51% were bilateral, other eye malformations were present in 72%, non-eye malformations in 65%, and a "known aetiology" was attributed in 22%. Three quarters of those severely affected survived infancy.
Despite high response rates from the sources of information contacted, the lack of duplication between sources indicates the difficulties of retrospective ascertainment and the need for multiple sources when establishing a register. Anophthalmos/microphthalmos is usually associated with other malformations. Most cases are of unknown aetiology.
The major causes of blindness in children vary widely from region to region, being largely determined by socioeconomic development, and the availability of primary health care and eye care services. In high-income countries, lesions of the optic nerve and higher visual pathways predominate as the cause of blindness, while corneal scarring from measles, vitamin A deficiency, the use of harmful traditional eye remedies, and ophthalmia neonatorum are the major causes in low-income countries. Retinopathy of prematurity is an important cause in middle-income countries. Other significant causes in all countries are cataract, congenital abnormalities, and hereditary retinal dystrophies. It is estimated that, in almost half of the children who are blind today, the underlying cause could have been prevented, or the eye condition treated to preserve vision or restore sight. The control of blindness in children is a priority within the World Health Organization's VISION 2020 programme. Strategies need to be region specific, based on activities to prevent blindness in the community--through measles immunization, health education, and control of vitamin A deficiency--and the provision of tertiary-level eye care facilities for conditions that require specialist management.
We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinically examined and detailed pregnancy, medical, and family histories obtained. A simple, rational, and apparently robust classification of the eye phenotype was developed based on the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% in the OFCD subgroup. Significant recurrence risks were found in both unilateral and bilateral disease. In four families, one parent had an OFCD, two of which were new diagnoses in asymptomatic subjects. All recurrences in first degree relatives occurred in the OFCD group with a single first cousin recurrence seen in the non-OFCD group. A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3. No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma.
Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement in children. This prospective study of children born in the United Kingdom was undertaken to determine the incidence of AMC diagnosed by ophthalmologists and to explore sociodemographic risks.
Recruitment was achieved though an established active surveillance system of U.K. ophthalmologists supported by a new research network of interested specialists, the Surveillance of Eye Anomalies (SEA-UK) Special Interest Group. It started October 1, 2006, and continued over 18 months.
One hundred thirty-five 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 the children. The cumulative incidence of AMC by age 16 years was 11.9 per 100,000 (95% CI, 10.9-15.4). Of the children examined, 41.5% had not seen an ophthalmologist by 3 months of age. The incidence in Scotland was nearly double that in England and Wales. The children of Pakistani ethnicity had a 3.7 (95% CI, 1.9-7.5) times higher risk of AMC than did white children. There was some evidence to suggest a higher incidence in the more socioeconomically deprived. The sibling risk ratio was 210 (95% CI, 25-722).
This is the first prospective study of AMC, and it establishes the frequency across the United Kingdom. Comparisons with data quoted in the literature are difficult because study methodologies differ, 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.
The purpose of this review is to describe the historical and current practice of public health surveillance [in the United States] to discuss new directions for surveillance both in terms of new public health priorities and new methodological tools and to assess the limitations of surveillance. (EXCERPT)
Active surveillance techniques using routine telephone contacts with providers improved the reporting of measles, rubella, salmonellosis, and hepatitis by a factor of 4.6 among private physicians in Monroe County, New York, and increased reporting for these target diseases from all sources by 51 percent. The timeliness of reporting was not improved by active surveillance. Reporting patterns varied by disease and source of report, suggesting the desirability of various approaches to surveillance based on local resources and priorities. Although reporting rates were higher for diseases among persons from census tracts of low socioeconomic status, physicians providing care to persons living in low-income areas responded no differently to active reporting than did those providing care to patients from middle- and high-income areas.
Nature is the international weekly journal of science: a magazine style journal that publishes full-length research papers in all disciplines of science, as well as News and Views, reviews, news, features, commentaries, web focuses and more, covering all branches of science and how science impacts upon all aspects of society and life.
Congenital ocular anomalies contribute significantly to childhood visual morbidity, with congenital cataract being a major cause of visual impairment throughout the world. As in many other countries, a National Congenital Anomaly System (NCAS) exists in England and Wales to monitor the frequency of ocular and other anomalies in order to identify new public health hazards and inform aetiological research. The aim of this study was to assess level of ascertainment by the NCAS of children with congenital cataract.
Using independent ophthalmic and paediatric national active surveillance schemes, all infants (< or =1 year) newly diagnosed with congenital and infantile cataract in England and Wales in 1 year from September 1995 were identified. These notifications were compared with those made independently to the NCAS during the same period. The proportion of cases identified by the active surveillance schemes and also notified to the NCAS was determined.
10% (15/149) of eligible children with newly diagnosed congenital or infantile cataract were actually notified to the NCAS. A higher proportion of those diagnosed as neonates (16%, 14/85) than in later infancy (2%, 1/64) was ascertained through the NCAS. There is a need for better verification of notifications and reported information in the NCAS.
Currently, ascertainment of congenital cataract through the NCAS is low and the system is likely to be insensitive to small but important changes in risk factors for this disorder. This limits its use for monitoring secular and other trends in ocular anomalies. Strategies to improve its future use are discussed, including enhancing the awareness and participation of ophthalmic professionals involved in managing children with anomalies.