Chang, Leon https://orcid.org/0009-0003-5223-7616
Poulter, James A. https://orcid.org/0000-0003-2048-5693
Webster, Andrew R.
Arno, Gavin https://orcid.org/0000-0002-6165-7888
Mukherjee, Rajarshi https://orcid.org/0000-0002-8707-6248
Lotery, Andrew https://orcid.org/0000-0001-5541-4305
Hardcastle, Alison J. https://orcid.org/0000-0002-0038-6770
Watson, Christopher M. https://orcid.org/0000-0003-2371-1844
Inglehearn, Chris F. https://orcid.org/0000-0002-5143-2562
Funding for this research was provided by:
Fight for Sight UK
Article History
Received: 4 June 2025
Revised: 9 September 2025
Accepted: 9 October 2025
First Online: 23 October 2025
Competing interests
: CMW has received travel expenses from Oxford Nanopore Technologies. All other authors declare no competing financial interests.
: For patients recruited in Leeds and in collaborating sites throughout the UK, informed written consent was obtained using a protocol that followed the precepts of the Declaration of Helsinki and was approved by the Leeds East Research Ethics Committee (Project reference 17/YH/0032). The 100,000 Genomes Project is covered by REC reference approval 14/EE/1112.