Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.

Autor: Dubucs C; Unité de Pharmacoépidémiologie, UMR CERPOP, INSERM, Université de Toulouse, Toulouse, France.; Département d'Anatomie et Cytologie Pathologiques, IUCT-Oncopole, Toulouse, France.; Faculté de Santé, Département MMP, Toulouse, France., Caillet A; Unité de Pharmacoépidémiologie, UMR CERPOP, INSERM, Université de Toulouse, Toulouse, France., Frémont F; Service d'ophtalmologie, Hôpital Pierre-Paul Riquet, CHU Toulouse-Purpan, Toulouse, France.; Clinique Honoré Cave, Montauban, France., Delteil L; Unité de Pharmacoépidémiologie, UMR CERPOP, INSERM, Université de Toulouse, Toulouse, France., N'Go V; Unité de Pharmacoépidémiologie, UMR CERPOP, INSERM, Université de Toulouse, Toulouse, France., Neville AJ; Centre for Clinical and Epidemiological Research, University of Ferrara and Azienda, Ospedaliero Universitario di Ferrara, Ferrara, Italy., Ballardini E; Neonatal Intensive Care Unit, University Hospital of Ferrara, IMER Registry (Emilia Romagna Registry of Birth Defects), Ferrara, Italy.; Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Dolk H; School of Medicine, Ulster University, Belfast, Northern Ireland, UK., Loane M; Institute of Nursing and Health Research, Ulster University, Belfast, Northern Ireland, UK., Garne E; Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark., Khoshnood B; INSERM U953, Hopital Saint Vincent de Paul, Paris, France., Lelong N; INSERM U953, Hopital Saint Vincent de Paul, Paris, France., Rissmann A; Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke-University Magdeburg, Magdeburg, Germany., O'Mahony M; Department of Public Health, St. Finbarr's Hospital, Cork, Ireland., Pierini A; Unit of Epidemiology of Rare Diseases and CA, Institute of Clinical Physiology-National Research Council, Pisa, Italy., Gatt M; Malta CA Register, Directorate for Health Information and Research, Pietà, Malta., Bergman J; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Science, Poznan, Poland., Latos Bielenska A; Department of Medical Genetics, Poznan University of Medical Science, Poznan, Poland., Echevarría González de Garibay LJ; Department of Health of the Basque Government, Vitoria-Gasteiz, Spain., Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain., Addor MC; Department of Woman-Mother-Child, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland., Tucker D; Public Health Wales, Public Health Knowledge and Research, Singleton Hospital, Swansea, Wales, UK., Jordan S; Faculty of Medicine, Health and Life Science, Swansea University, Swansea, Wales, UK., Den Hond E; Provincial Institute of Hygiene, Antwerp, Belgium., Nelen V; Provincial Institute of Hygiene, Antwerp, Belgium., Barisic I; Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia., Rouget F; Department of Neonatology, University Hospital, Rennes, France., Randrianaivo H; Unit of Congenital Malformations, REMACOR-Medical School University of La Réunion St. Pierre, Sainte-Clotilde/Register of Reunion Island CHU LA REUNION, Réunion, France., Hoareau J; Unit of Congenital Malformations, REMACOR-Medical School University of La Réunion St. Pierre, Sainte-Clotilde/Register of Reunion Island CHU LA REUNION, Réunion, France., Perthus I; Génétique médicale, CHU Estaing, Centre d'Etude Des Malformations Congénitales en Auvergne, Clermont-Ferrand, France., Hurault-Delarue C; Unité de Pharmacoépidémiologie, UMR CERPOP, INSERM, Université de Toulouse, Toulouse, France., Courtade-Saïdi M; Département d'Anatomie et Cytologie Pathologiques, IUCT-Oncopole, Toulouse, France.; Faculté de Santé, Département MMP, Toulouse, France., Damase-Michel C; Unité de Pharmacoépidémiologie, UMR CERPOP, INSERM, Université de Toulouse, Toulouse, France.; Service de Pharmacologie Clinique, Faculté de Médecine, Université de Toulouse, CHU de Toulouse, Toulouse, France.
Jazyk: angličtina
Zdroj: Birth defects research [Birth Defects Res] 2024 Nov; Vol. 116 (11), pp. e2414.
DOI: 10.1002/bdr2.2414
Abstrakt: Background: Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high-income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population-based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.
Methods: Data from 19 EUROmediCAT registries and one healthcare database (EFEMERIS) were included in this descriptive epidemiological study. Cases of COA included live births, FD from 20 weeks gestational age (GA), and termination of pregnancy for fetal anomaly.
Results: The prevalence of total COA was 3.47/10,000 births (95% CI [3.61-3.82]), ranging from 1.41 to 13.46/10,000 depending on the registry. Among COA cases, congenital lens anomalies were the most frequent anomalies (31%), of which over half were single ocular anomalies (presenting with only one ocular anomaly). An/microphthalmia was the second most frequent COA (24%) of which three-quarters were multiply malformed (associated to extraocular major anomalies). Among single COA cases, 58 were prenatally diagnosed (4%), of which, 58% were diagnosed in the second trimester. Known genetic causes of COA explained 2.5%-25% of COA depending on their class.
Conclusions: This is the first European study describing COA. The detailed prevalence data offered in this study could improve screening and early diagnosis of different classes of COA. As COA are rare, epidemiological surveillance of large populations and accurate clinical descriptions are essential.
(© 2024 The Author(s). Birth Defects Research published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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