Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 ( <i>RGS9</i> )
Bradyopsia associated with homozygous RGS9 c.895T>C variants is characterized by normal retinal structure but subnormal macular sensitivity. Extended ERG protocols can be used to confirm delayed phototransduction recovery.
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)
- Charles L. Cottriall
- 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)
- Terri L. McLaren (ORCID: https://orcid.org/0000-0003-3195-669X)
- 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)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Sian Sperring
- Enid S. Chelva
- Penny Clouston
Institutions
- Lions Eye Institute (AU)
- National Health Service (GB)
- Royal Perth Hospital (AU)
- Great Ormond Street Hospital (GB)
- Nuffield Orthopaedic Centre (GB)
- Sir Charles Gairdner Hospital (AU)
- University of Oxford (GB)
- The Royal Victorian Eye & Ear Hospital (AU)
- Centre for Eye Research Australia (AU)
- Oxford University Hospitals NHS Trust (GB)
- University College London (GB)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-09-15
- DOI
- https://doi.org/10.1080/13816810.2025.2554660
- Primary Topic
- Cellular transport and secretion
- Type
- article
- Field-Weighted Citation Impact
- 0.00