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Authors
Merepa, Solomon S.
Reis, Linda M. https://orcid.org/0000-0002-5098-6336
Damián, Alejandra https://orcid.org/0000-0003-1886-8257
Bardakjian, Tanya
Schneider, Adele
Trujillo-Tiebas, María Jose
Ayuso, Carmen https://orcid.org/0000-0002-9242-7065
Galarza, Laura Cortázar
Saez Villaverde, Raquel
Ortiz-Cabrera, Nelmar Valentina
Bax, Dorine A.
Holt, Richard
Ceroni, Fabiola https://orcid.org/0000-0002-7474-6361
Edery, Patrick
Grelet, Maude
Riccardi, Florence
Maillard, Lauriane
Costakos, Deborah
Plaisancié, Julie https://orcid.org/0000-0001-7551-248X
Chassaing, Nicolas
Corton, Marta
Semina, Elena V. https://orcid.org/0000-0003-0531-3586
Ragge, Nicola K. https://orcid.org/0000-0002-6122-4521
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Funding
Funding for this research was provided by:
Baillie Gifford Microphthalmia, Anophthalmia and Coloboma Support
Baillie Gifford MACS
Agence Nationale de la Recherche
National Institutes of Health
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Article History
Received: 11 December 2024
Revised: 20 February 2025
Accepted: 25 March 2025
First Online: 30 April 2025
Competing interests
: The authors declare no competing interests.
: Families 7 and 8 are from the ‘Genetics of Eye and Brain anomalies’ research study UK [Cambridge East Ethics Committee (04/Q0104/129)]. Families 2, 4, 14 and 15 are from the ‘Genetics of Congenital Ocular Disorders’ study, Fundación Jimenez Díaz University Hospital Spain [Ethics Research Committee FJD (PIC015-18)]. Families 3, 5, 6, 9, 10 and 13 are from the ‘Genetic Studies of Human Ocular Disorders’ study USA [Institutional Review Board of the Medical College of Wisconsin (PRO45954), Children’s Wisconsin (124172) and Einstein Healthcare Network (HN2191)]. Families 1, 11 and 12 were identified through diagnostic testing in France. Consent was obtained from all participants according to the tenets of the Declaration of Helsinki.
