Inherited retinal disorders in Scotland: A 5 year assessment
This study provides the first assessment of IRDs in Scotland over a 5 year period. We demonstrate that the most common clinical diagnoses are RP and Stargardt disease, and that the majority received a molecular diagnosis. This work provides a unique insight into the Scottish ophthalmic genetics service and serves as a benchmark for iterative improvement.
Authors
- David F. Gilmour
- Fiona Osborne (ORCID: https://orcid.org/0000-0002-3779-2182)
- B. Staniszewski (ORCID: https://orcid.org/0000-0002-6129-8774)
- Andreea Ionean
- Mertcan Sevgi (ORCID: https://orcid.org/0009-0003-8426-6534)
- Nick George
- Roly Megaw
- James E. Hazelwood
Institutions
- NHS Greater Glasgow and Clyde (GB)
- Aberdeen Royal Infirmary (GB)
- NHS Tayside (GB)
- Princess Alexandra Eye Pavilion (GB)
- Gartnavel General Hospital (GB)
- Ninewells Hospital (GB)
- Edinburgh Cancer Research (GB)
- NHS Grampian (GB)
- Institute of Genetics and Cancer (GB)
- University of Edinburgh (GB)
Publication Details
- Journal
- Eye
- Published
- 2026-01-09
- DOI
- https://doi.org/10.1038/s41433-025-04216-z
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00