Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients
This study expands the genetic spectrum underlying nERGs, confirming prior associations and identifying five novel genes associations. We provide evidence for the role of ON-bipolar pathway in myopia development. In photoreceptor dystrophies, nERGs rarely occur and likely represent a transient epiphenomenon independent of the underlying gene or mechanism.
Authors
- Eoghan Millar (ORCID: https://orcid.org/0000-0002-2602-1112)
- H. Robson MacDonald (ORCID: https://orcid.org/0000-0001-9480-2677)
- Regan Klatt
- Kirill Zaslavsky (ORCID: https://orcid.org/0000-0002-0286-8669)
- Elise Héon (ORCID: https://orcid.org/0000-0003-4143-9311)
- Ajoy Vincent (ORCID: https://orcid.org/0000-0001-6446-3846)
- Anupreet Tumber
- Asim Ali (ORCID: https://orcid.org/0000-0002-6896-8507)
- Olga Boginskaia
Institutions
- University of British Columbia (CA)
- University of Toronto (CA)
- Royal Hospital for Children (GB)
- Hospital for Sick Children (CA)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-12-04
- DOI
- https://doi.org/10.1167/iovs.66.15.19
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- ACMG Foundation for Genetic and Genomic Medicine