Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel
The expanded FEVR gene panel detected DCVs in nearly one-half of our cohort. Including the criteria used in classification will improve transparency of variant calls as more data become available. Four FEVR genes account for most cases, and the role of rare FEVR genes and candidate genes requires further study.
Authors
- Roxanne M. Gillett
- Johane M. Robitaille (ORCID: https://orcid.org/0000-0003-3172-854X)
- Sarah van der Ende
- M Beis
- Mathew Nightingale (ORCID: https://orcid.org/0000-0003-1465-7911)
- Rajeev H. Muni (ORCID: https://orcid.org/0000-0003-0465-6472)
- Karen Bedard (ORCID: https://orcid.org/0000-0001-5864-5344)
- Christopher R. McMaster (ORCID: https://orcid.org/0000-0003-0822-5776)
- Marissa A. LeBlanc (ORCID: https://orcid.org/0009-0002-6410-9577)
- Karin Wallace
- Michael P. Mackley (ORCID: https://orcid.org/0000-0002-7388-0905)
- Alex V. Levin (ORCID: https://orcid.org/0000-0002-5649-2978)
- Ian H. Clark (ORCID: https://orcid.org/0000-0002-6309-9752)
- Elias I. Traboulsi (ORCID: https://orcid.org/0000-0001-8870-7673)
- Daniel Gaston (ORCID: https://orcid.org/0000-0003-2841-8057)
- Christopher J. Lyons (ORCID: https://orcid.org/0000-0003-3225-7022)
- Élise Héon
Institutions
- Dalhousie University (CA)
- Cleveland Clinic (US)
- Fisheries and Oceans Canada (CA)
- University of British Columbia (CA)
- University of Toronto (CA)
- Bedford Institute of Oceanography (CA)
- Izaak Walton Killam Health Centre (CA)
- Hospital for Sick Children (CA)
- Nova Scotia Health Authority (CA)
- Golisano Children's Hospital (US)
- SickKids Foundation (CA)
- BC Children's Hospital (CA)
- Cleveland Eye Clinic (US)
- University of Manitoba (CA)
- University of Rochester (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1167/iovs.66.2.23
- Citations
- 4
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 3.37
Funders
- Canadian Institutes of Health Research