#CC-Paper-03 Clinical and electrophysiological phenotype in probands with homozygous variant, c.895T>C, in <i>RGS9</i>
segmented vessels in 72 FAF images from 52 RLH patients, validated on 48 FAF images from 40 patients at MEH, and 23 FAF images from 22 patients at RLH. Six graders manually segmented 3947 masks in total.Model-grader dice scores for disc, hypo-AF, hyper-AF, ring and vessels were respectively 0.86, 0.72, 0.69, 0.68 and 0.65, with intergrader dice scores of 0.82, 0.75, 0.72, 0.80, 0.95, respectively.
Authors
- Danial Roshandel (ORCID: https://orcid.org/0000-0002-6716-6406)
- Jennifer Whitfield
- Samantha Roshani De Silva (ORCID: https://orcid.org/0000-0002-4455-2814)
- Rachael C. Heath Jeffery (ORCID: https://orcid.org/0000-0002-9078-7059)
- Morag E. Shanks
- Grace A. Borchert (ORCID: https://orcid.org/0000-0002-1395-6875)
- Andrea H. Németh (ORCID: https://orcid.org/0000-0002-2941-7657)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Robert E. MacLaren (ORCID: https://orcid.org/0000-0002-3096-4682)
- Jasmina Cehajic‐Kapetanovic (ORCID: https://orcid.org/0000-0002-9956-6412)
- Kanmin Xue (ORCID: https://orcid.org/0000-0003-0065-9131)
- Tina M. Lamey (ORCID: https://orcid.org/0000-0002-4608-4073)
- Susan M. Downes (ORCID: https://orcid.org/0000-0001-7373-2665)
- Sian Sperring
- Jennifer A Thompson
- Penny Clouston
Institutions
- Lions Eye Institute (AU)
- National Health Service (GB)
- The University of Western Australia (AU)
- Great Ormond Street Hospital (GB)
- Sir Charles Gairdner Hospital (AU)
- University of Oxford (GB)
- Centre for Eye Research Australia (AU)
- Oxford University Hospitals NHS Trust (GB)
- University College London (GB)
Publication Details
- Published
- 2024-10-01
- DOI
- https://doi.org/10.1136/bmjoo-2024-ukegg.12
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00