Document is current
Any future updates will be listed below
-
Authors
Ceroni, Fabiola https://orcid.org/0000-0002-7474-6361
Reis, Linda M. https://orcid.org/0000-0002-5098-6336
Watkins, Fiona
Bax, Dorine A.
Fischer, Megan C.
Jeganathan, Karthikah
Jewell, Rosalyn https://orcid.org/0000-0002-9909-7142
Martin, Jacob S. https://orcid.org/0000-0002-5512-0929
Salt, Alison
Seese, Sarah E.
Thomson, Jenny
Semina, Elena V. https://orcid.org/0000-0003-0531-3586
Ragge, Nicola K. https://orcid.org/0000-0002-6122-4521
- License Information
-
More Information
Article History
Received: 20 October 2025
Revised: 5 February 2026
Accepted: 11 March 2026
First Online: 7 April 2026
Competing interests
: The authors declare no competing interests.
: Family 1 was recruited to the ‘Genetic Studies of Human Ocular Disorders’ project (US-WI) approved by the Institutional Review Boards of Children’s Wisconsin (124172) and Medical College of Wisconsin (PRO45954). Family 2 was recruited to the ‘Genetics of Eye and Brain Anomalies’ study (UK), approved by the Cambridge East Ethics Committee (REC 04/Q0104/129). Both studies are performed in accordance with the tenets of the Declaration of Helsinki. Written informed consent for publication of data and clinical images was provided by all participants/legal guardians.
