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

Charlotte Dubucs Orcid Logo, Anthony Caillet, Félix Frémont, Laurane Delteil, Van N'Go, Amanda Julie Neville, Elisa Ballardini, Helen Dolk Orcid Logo, Maria Loane Orcid Logo, Ester Garne Orcid Logo, Babak Khoshnood, Nathalie Lelong, Anke Rissmann Orcid Logo, Mary O'Mahony, Anna Pierini, Miriam Gatt, Jorieke Bergman Orcid Logo, Maciej Robert Krawczynski, Anna Latos Bielenska, Luis Javier Echevarría González de Garibay, Clara Cavero‐Carbonell, Marie‐Claude Addor, David Tucker, Sue Jordan, Elly Den Hond, Vera Nelen, Ingeborg Barisic, Florence Rouget, Hanitra Randrianaivo, Jonathan Hoareau, Isabelle Perthus, Caroline Hurault‐Delarue, Monique Courtade‐Saïdi, Christine Damase‐Michel

Birth Defects Research, Volume: 116, Issue: 11, Start page: e2414

Swansea University Author: Sue Jordan

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DOI (Published version): 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 EUROme...

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Published in: Birth Defects Research
ISSN: 2472-1727 2472-1727
Published: Wiley 2024
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URI: https://cronfa.swan.ac.uk/Record/cronfa68370
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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&#x2013;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&#x2010;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%&#x2013;25% of COA depending on their class. 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spelling 2025-02-04T12:27:30.9726269 v2 68370 2024-11-28 Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study 24ce9db29b4bde1af4e83b388aae0ea1 Sue Jordan Sue Jordan true false 2024-11-28 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. Journal Article Birth Defects Research 116 11 e2414 Wiley 2472-1727 2472-1727 Congenital ocular anomalies, descriptive epidemiological study, epidemiology, Europe, ocular defect 25 11 2024 2024-11-25 10.1002/bdr2.2414 COLLEGE NANME COLLEGE CODE Swansea University Another institution paid the OA fee The authors received no specific funding for this work. 2025-02-04T12:27:30.9726269 2024-11-28T12:49:35.9552048 Faculty of Medicine, Health and Life Sciences School of Health and Social Care - Nursing Charlotte Dubucs 0000-0003-2371-4113 1 Anthony Caillet 2 Félix Frémont 3 Laurane Delteil 4 Van N'Go 5 Amanda Julie Neville 6 Elisa Ballardini 7 Helen Dolk 0000-0001-6639-5904 8 Maria Loane 0000-0002-1206-3637 9 Ester Garne 0000-0003-0430-2594 10 Babak Khoshnood 11 Nathalie Lelong 12 Anke Rissmann 0000-0002-9437-2790 13 Mary O'Mahony 14 Anna Pierini 15 Miriam Gatt 16 Jorieke Bergman 0000-0002-3929-3619 17 Maciej Robert Krawczynski 18 Anna Latos Bielenska 19 Luis Javier Echevarría González de Garibay 20 Clara Cavero‐Carbonell 21 Marie‐Claude Addor 22 David Tucker 23 Sue Jordan 24 Elly Den Hond 25 Vera Nelen 26 Ingeborg Barisic 27 Florence Rouget 28 Hanitra Randrianaivo 29 Jonathan Hoareau 30 Isabelle Perthus 31 Caroline Hurault‐Delarue 32 Monique Courtade‐Saïdi 33 Christine Damase‐Michel 34 68370__32992__ba9ddac9eafa4e0580ea48c2250fba98.pdf bdr2.2414.pdf 2024-11-28T12:49:35.9481358 Output 472987 application/pdf Version of Record true © 2024 The Author(s). This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (CC BY-NC-ND 4.0). true eng http://creativecommons.org/licenses/by-nc-nd/4.0/
title Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
spellingShingle Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
Sue Jordan
title_short Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
title_full Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
title_fullStr Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
title_full_unstemmed Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
title_sort Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
author_id_str_mv 24ce9db29b4bde1af4e83b388aae0ea1
author_id_fullname_str_mv 24ce9db29b4bde1af4e83b388aae0ea1_***_Sue Jordan
author Sue Jordan
author2 Charlotte Dubucs
Anthony Caillet
Félix Frémont
Laurane Delteil
Van N'Go
Amanda Julie Neville
Elisa Ballardini
Helen Dolk
Maria Loane
Ester Garne
Babak Khoshnood
Nathalie Lelong
Anke Rissmann
Mary O'Mahony
Anna Pierini
Miriam Gatt
Jorieke Bergman
Maciej Robert Krawczynski
Anna Latos Bielenska
Luis Javier Echevarría González de Garibay
Clara Cavero‐Carbonell
Marie‐Claude Addor
David Tucker
Sue Jordan
Elly Den Hond
Vera Nelen
Ingeborg Barisic
Florence Rouget
Hanitra Randrianaivo
Jonathan Hoareau
Isabelle Perthus
Caroline Hurault‐Delarue
Monique Courtade‐Saïdi
Christine Damase‐Michel
format Journal article
container_title Birth Defects Research
container_volume 116
container_issue 11
container_start_page e2414
publishDate 2024
institution Swansea University
issn 2472-1727
2472-1727
doi_str_mv 10.1002/bdr2.2414
publisher Wiley
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str School of Health and Social Care - Nursing{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}School of Health and Social Care - Nursing
document_store_str 1
active_str 0
description 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.
published_date 2024-11-25T05:25:18Z
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