Charlotte Dubucs 1 2 3, Anthony Caillet 1, Félix Frémont 4 5, Laurane Delteil 1, Van N'Go 1, Amanda Julie Neville 6, Elisa Ballardini 7 8, Helen Dolk 9, Maria Loane 10, Ester Garne 11, Babak Khoshnood 12, Nathalie Lelong 12, Anke Rissmann 13, Mary O'Mahony 14, Anna Pierini 15, Miriam Gatt 16, Jorieke Bergman 17, Maciej Robert Krawczynski 18, Anna Latos Bielenska 18, Luis Javier Echevarría González de Garibay 19, Clara Cavero-Carbonell 20, Marie-Claude Addor 21, David Tucker 22, Sue Jordan 23, Elly Den Hond 24, Vera Nelen 24, Ingeborg Barisic 25, Florence Rouget 26, Hanitra Randrianaivo 27, Jonathan Hoareau 27, Isabelle Perthus 28, Caroline Hurault-Delarue 1, Monique Courtade-Saïdi 2 3, Christine Damase-Michel 1 29Affiliations Expand

• PMID: 39582415
• PMCID: PMC11586828
• DOI: 10.1002/bdr2.2414

Abstract 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.Keywords: Europe; congenital ocular anomalies; descriptive epidemiological study; epidemiology; ocular defect.© 2024 The Author(s). Birth Defects Research published by Wiley Periodicals LLC.