{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T03:38:09Z","timestamp":1792640289226,"version":"4.5.0"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Dis Child Fetal Neonatal Ed"],"published-print":{"date-parts":[[1998,11,1]]},"abstract":"<jats:sec>\n                  <jats:title>AIM<\/jats:title>\n                  <jats:p>To describe the prevalence of anophthalmia\/microphthalmia in babies born in England 1988\u201394, 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec sec-type=\"methods\">\n                  <jats:title>METHODS<\/jats:title>\n                  <jats:p>Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988\u201394. 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>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 \u201cknown aetiology\u201d was attributed in 22%. Three quarters of those severely affected survived infancy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n                  <jats:p>\n                     <jats:boxed-text position=\"float\">\n                        <jats:sec>\n                           <jats:title>Key messages<\/jats:title>\n                           <jats:def-list>\n                              <jats:def-item>\n                                 <jats:term>\u2002\u2022<\/jats:term>\n                                 <jats:def>\n                                    <jats:p>One in 10 000 babies born in England has anophthalmia or microphthalmia, one third of whom are mildly affected<\/jats:p>\n                                 <\/jats:def>\n                              <\/jats:def-item>\n                           <\/jats:def-list>\n                           <jats:def-list>\n                              <jats:def-item>\n                                 <jats:term>\u2002\u2022<\/jats:term>\n                                 <jats:def>\n                                    <jats:p>Most babies born with anophthalmia\/microphthalmia have additional malformations<\/jats:p>\n                                 <\/jats:def>\n                              <\/jats:def-item>\n                           <\/jats:def-list>\n                           <jats:def-list>\n                              <jats:def-item>\n                                 <jats:term>\u2002\u2022<\/jats:term>\n                                 <jats:def>\n                                    <jats:p>Retrospective case ascertainment for conditions like anophthalmia\/microphthalmia poses particular difficulties due to incomplete or inappropriate diagnostic indexing of existing data collection systems<\/jats:p>\n                                 <\/jats:def>\n                              <\/jats:def-item>\n                           <\/jats:def-list>\n                           <jats:def-list>\n                              <jats:def-item>\n                                 <jats:term>\u2002\u2022<\/jats:term>\n                                 <jats:def>\n                                    <jats:p>The ONS Congenital Malformation Scheme is very incomplete in its ascertainment of babies born with anophthalmia\/microphthalmia, whether mild or severe<\/jats:p>\n                                 <\/jats:def>\n                              <\/jats:def-item>\n                           <\/jats:def-list>\n                           <jats:def-list>\n                              <jats:def-item>\n                                 <jats:term>\u2002\u2022<\/jats:term>\n                                 <jats:def>\n                                    <jats:p>Multiple sources of case ascertainment are indispensable for establishing a register of a condition such as anophthalmia\/microphthalmia<\/jats:p>\n                                 <\/jats:def>\n                              <\/jats:def-item>\n                           <\/jats:def-list>\n                        <\/jats:sec>\n                     <\/jats:boxed-text>\n                  <\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/fn.79.3.f168","type":"journal-article","created":{"date-parts":[[2009,4,8]],"date-time":"2009-04-08T11:39:16Z","timestamp":1239190756000},"page":"F168-F173","source":"Crossref","is-referenced-by-count":33,"title":["Compiling a national register of babies born with anophthalmia\/microphthalmia in England 1988\u201394"],"prefix":"10.1136","volume":"79","author":[{"given":"Araceli","family":"Busby","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Dolk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Collin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Barry","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,11,1]]},"reference":[{"key":"2025090509435413000_79.3.F168.1","unstructured":"Paduano M. Mystery of babies with no eyes.Observer 17 January 1993:3.."},{"key":"2025090509435413000_79.3.F168.2","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1136\/bmj.307.6900.340","article-title":"\u00e2\u0080\u009cClusters\u00e2\u0080\u009d of anophthalmia in Britain. Difficult to implicate Benomyl on current evidence.","volume":"307","author":"Gilbert","year":"1993","journal-title":"BMJ"},{"key":"2025090509435413000_79.3.F168.3","unstructured":"Dolk H, Busby A, Armstrong B, Walls P. Geographical variation in anophthalmia\/microphthalmia in England 1988-94: no clustering but a higher prevalence in rural areas. Report to Department of Health, August 1997.."},{"key":"2025090509435413000_79.3.F168.4","doi-asserted-by":"crossref","first-page":"57","DOI":"10.3109\/13816819109023675","article-title":"Update on microphthalmos and coloboma. A brief survey of genetic disorders.","volume":"12","author":"Warburg","year":"1991","journal-title":"Ophthalmic Paediatrics"},{"key":"2025090509435413000_79.3.F168.5","first-page":"S3","article-title":"The epidemiology of an\/microphthalmia in Europe.","volume":"11","author":"Dolk","year":"1995","journal-title":"Eur J Epidemiol"},{"key":"2025090509435413000_79.3.F168.6","doi-asserted-by":"crossref","first-page":"111","DOI":"10.3109\/13816819209087611","article-title":"Update of sporadic microphthalmos and coloboma.","volume":"13","author":"Warburg","year":"1992","journal-title":"Ophthalmic Paediatrics"},{"key":"2025090509435413000_79.3.F168.7","unstructured":"Jones K (1988) Smith\u00e2\u0080\u0099s Recognizable Patterns of Human Malformations. (WB Saunders, Philadelphia)."},{"key":"2025090509435413000_79.3.F168.8","first-page":"237","article-title":"Reproductive and developmental toxicity of toluene: a review.","volume":"94","author":"Donald","year":"1991","journal-title":"Envir Health Perspect"},{"key":"2025090509435413000_79.3.F168.9","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1080\/00039896.1996.9935986","article-title":"Chlorpyrifos (Dsurban) associated birth defects: report of four cases.","volume":"51","author":"Sherman","year":"1996","journal-title":"Arch Envir Health"},{"key":"2025090509435413000_79.3.F168.10","doi-asserted-by":"crossref","first-page":"601","DOI":"10.3109\/02713689109013852","article-title":"Effects on the fetal rat eye of maternal benomyl exposure and protein malnutrition.","volume":"10","author":"Hoogenboom","year":"1991","journal-title":"Curr Eye Res"},{"key":"2025090509435413000_79.3.F168.11","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/25.5.1009"},{"key":"2025090509435413000_79.3.F168.12","first-page":"37","article-title":"Ninth Annual Report. Community Disease Report.","volume":"6","year":"1996","journal-title":"CDR Weekly"},{"key":"2025090509435413000_79.3.F168.13","unstructured":"Working Group of the Registar General\u00e2\u0080\u0099s Medical Advisory Committee (1995) The OPCS Monitoring Scheme for Congenital Malformations. Occasional Paper 43. (The Office of Population Censuses and Surveys, London)."}],"container-title":["Archives of Disease in Childhood - Fetal and Neonatal Edition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/fn.79.3.F168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T16:44:07Z","timestamp":1757090647000},"score":1,"resource":{"primary":{"URL":"https:\/\/fn.bmj.com\/lookup\/doi\/10.1136\/fn.79.3.F168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,11,1]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1998,11,1]]},"published-print":{"date-parts":[[1998,11,1]]}},"alternative-id":["10.1136\/fn.79.3.F168"],"URL":"https:\/\/doi.org\/10.1136\/fn.79.3.f168","relation":{},"ISSN":["1359-2998","1468-2052"],"issn-type":[{"value":"1359-2998","type":"print"},{"value":"1468-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,11,1]]}}}