BACKGROUND: Microphthalmia, anophthalmia and coloboma (MAC) are closely related structural developmental eye defects that have caused public concern in the UK following media reports of apparent clusters of cases. An extensive search was carried out to identify potential cases, and diagnoses were confirmed by ophthalmological review. Despite this effort, it was recognised that some cases would remain unidentified. Capture-recapture methods could improve the accuracy of the study's birth prevalence estimate. METHODS: A register of all children born with the developmental eye defects of MAC in Scotland (1981-96) was compiled. This identified 188 cases from eight national ascertainment sources. The methods described by Hook and Regal were used to determine possible estimates for each source. A log-linear method of capture-recapture was used to fit a model to the number of children identified by the different combinations of the eight national sources, and the individual sources were included in the model as main effects. RESULTS: Maximum-likelihood estimates were calculated for tables of captured/not captured by one source versus any other source. The estimated number of unobserved cases for the most complete source, the register of congenital anomalies for Scotland, and the seven others combined is 78 (95% CI 53-115). Estimates calculated from two different log-linear models of the numbers of cases unobserved by all sources were 61 (95% CI 43-86) and 175 (95% CI 106-287). An external check with an independent congenital-anomalies register in one region, which is known to have high completeness, gave an estimate of 120. The study found a birth prevalence of MAC in Scotland of 1.9/10000, based on total live births during the study period. The capture-recapture analysis suggests that the true birth prevalence lies between 2.4/10 000 and 3.5/10000. DISCUSSION: Our experience shows that, even with multiple sources of ascertainment and considerable resources directed at case identification, a considerable level of under-ascertainment of congenital eye-anomalies still results, and suggests that the use of capture-recapture analysis would be a useful addition to congenital anomalies registers for needs assessment, disease-burden estimates and health-service planning.
BACKGROUND:Microphthalmia, anophthalmia and coloboma (MAC) are closely related structural developmental eye defects that have caused public concern in the UK following media reports of apparent clusters of cases. An extensive search was carried out to identify potential cases, and diagnoses were confirmed by ophthalmological review. Despite this effort, it was recognised that some cases would remain unidentified. Capture-recapture methods could improve the accuracy of the study's birth prevalence estimate. METHODS: A register of all children born with the developmental eye defects of MAC in Scotland (1981-96) was compiled. This identified 188 cases from eight national ascertainment sources. The methods described by Hook and Regal were used to determine possible estimates for each source. A log-linear method of capture-recapture was used to fit a model to the number of children identified by the different combinations of the eight national sources, and the individual sources were included in the model as main effects. RESULTS: Maximum-likelihood estimates were calculated for tables of captured/not captured by one source versus any other source. The estimated number of unobserved cases for the most complete source, the register of congenital anomalies for Scotland, and the seven others combined is 78 (95% CI 53-115). Estimates calculated from two different log-linear models of the numbers of cases unobserved by all sources were 61 (95% CI 43-86) and 175 (95% CI 106-287). An external check with an independent congenital-anomalies register in one region, which is known to have high completeness, gave an estimate of 120. The study found a birth prevalence of MAC in Scotland of 1.9/10000, based on total live births during the study period. The capture-recapture analysis suggests that the true birth prevalence lies between 2.4/10 000 and 3.5/10000. DISCUSSION: Our experience shows that, even with multiple sources of ascertainment and considerable resources directed at case identification, a considerable level of under-ascertainment of congenital eye-anomalies still results, and suggests that the use of capture-recapture analysis would be a useful addition to congenital anomalies registers for needs assessment, disease-burden estimates and health-service planning.
Authors: Congyao Zha; Carole A Farah; Richard J Holt; Fabiola Ceroni; Lama Al-Abdi; Fanny Thuriot; Arif O Khan; Rana Helaby; Sébastien Lévesque; Fowzan S Alkuraya; Alison Kraus; Nicola K Ragge; Wayne S Sossin Journal: Hum Mol Genet Date: 2020-11-04 Impact factor: 6.150
Authors: Sibel Ugur Iseri; Alexander W Wyatt; Gudrun Nürnberg; Christian Kluck; Peter Nürnberg; Graham E Holder; Ed Blair; Alison Salt; Nicola K Ragge Journal: Hum Genet Date: 2010-04-23 Impact factor: 4.132
Authors: R Holt; S A Ugur Iseri; A W Wyatt; D A Bax; D Gold Diaz; C Santos; S Broadgate; R Dunn; J Bruty; Y Wallis; D McMullan; C Ogilvie; D Gerrelli; Y Zhang; Nicola Ragge Journal: Hum Genet Date: 2016-11-14 Impact factor: 4.132