<i>EGFLAM</i> Pathogenic Variants and Congenital Stationary Night Blindness
This case series reports on a gene defect in EGFLAM implicated in human cCSNB. Clinicians should be aware about this association and consider including EGFLAM in diagnostic gene panels for IRDs. This discovery may lead to faster and more accurate diagnosis of cCSNB and genetic counseling, as well as a pathway for developing therapies.
Authors
- Lonneke Haer‐Wigman (ORCID: https://orcid.org/0000-0003-3595-0797)
- Vasily Smirnov (ORCID: https://orcid.org/0000-0003-4172-514X)
- L. Ingeborgh van den Born (ORCID: https://orcid.org/0000-0002-6375-3339)
- Sabine Defoort
- Virginie J. M. Verhoeven (ORCID: https://orcid.org/0000-0001-7359-7862)
- José-Alain Sahel
- Isabelle Audo (ORCID: https://orcid.org/0000-0003-4527-3830)
- Claire‐Marie Dhaenens (ORCID: https://orcid.org/0000-0003-4719-4124)
- Martha Tjon-Fo-Sang
- Christel Condroyer (ORCID: https://orcid.org/0009-0000-6189-0906)
- Christina Zeitz
- Aline Antonio (ORCID: https://orcid.org/0000-0001-5942-9555)
- Julien Navarro (ORCID: https://orcid.org/0009-0000-0448-5461)
- Sanja Boranijasevic (ORCID: https://orcid.org/0009-0009-2191-0007)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Institut de la Vision (FR)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- University of Pittsburgh (US)
- Université de Lille (FR)
- Centre hospitalier national d'ophtalmologie des Quinze-Vingts (FR)
- Erasmus MC (NL)
- Radboud University Medical Center (NL)
- Centre Hospitalier Universitaire de Lille (FR)
- Sorbonne Université (FR)
- Rotterdam Eye Hospital (NL)
- Lille Neurosciences & Cognition (FR)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2025-12-04
- DOI
- https://doi.org/10.1001/jamaophthalmol.2025.4888
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- University of Pennsylvania
- Justus Liebig Universität Gießen
- University of Leicester
- University College London
- University of Leeds
- Institut National de la Santé et de la Recherche Médicale
- Albert-Ludwigs-Universität Freiburg
- Universitair Ziekenhuis Gent
- Université de Strasbourg
- Universiteit Gent
- Université de Lausanne
- Direction Générale de l’offre de Soins
- Université de Nantes
- Moorfields Eye Hospital NHS Foundation Trust
- Perelman School of Medicine, University of Pennsylvania
- Institute of Genetics