Elevated Plasma Complement Factors in <i>CRB1</i>-Associated Inherited Retinal Dystrophies
CRB1-IRDs are characterized by changes in plasma levels of complement factors and proteins of the innate immune system, and linkage between CRB1 and CFH genes implicates functional variants of the CFH-CFHR locus with specific pathogenic variants of CRB1.
Authors
- Carlo Rivolta (ORCID: https://orcid.org/0000-0002-0733-9950)
- Susanne Kohl (ORCID: https://orcid.org/0000-0002-6438-6331)
- L. Ingeborgh van den Born (ORCID: https://orcid.org/0000-0002-6375-3339)
- Jessica van Setten (ORCID: https://orcid.org/0000-0002-4934-7510)
- Béatrice Bocquet (ORCID: https://orcid.org/0000-0002-6369-4818)
- Aafke de Ligt
- R. Strupaite-Sileikiene
- Martin McKibbin (ORCID: https://orcid.org/0000-0003-4388-243X)
- Sanne Hiddingh (ORCID: https://orcid.org/0000-0003-1937-374X)
- Lisa Roberts (ORCID: https://orcid.org/0000-0001-6766-0255)
- Monika Ołdak (ORCID: https://orcid.org/0000-0002-4216-9141)
- Joke H. de Boer (ORCID: https://orcid.org/0000-0003-1712-3050)
- Lude Moekotte
- Xuan‐Thanh‐An Nguyen (ORCID: https://orcid.org/0000-0001-8350-5896)
- Sandro Banfi (ORCID: https://orcid.org/0000-0002-6541-8833)
- Terri L. McLaren (ORCID: https://orcid.org/0000-0003-3195-669X)
- G. Jane Farrar (ORCID: https://orcid.org/0000-0002-9959-1992)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Jonas J. W. Kuiper (ORCID: https://orcid.org/0000-0002-5370-6395)
- Chris F. Inglehearn (ORCID: https://orcid.org/0000-0002-5143-2562)
- Alaa AlTalbishi (ORCID: https://orcid.org/0000-0002-9879-8828)
- Daan M. Panneman (ORCID: https://orcid.org/0000-0002-4384-505X)
- Raj Ramesar (ORCID: https://orcid.org/0000-0001-5688-1634)
- Camiel J.F. Boon (ORCID: https://orcid.org/0000-0002-6737-7932)
- Erica G. M. Boonen (ORCID: https://orcid.org/0000-0003-1509-3150)
- Susanne Roosing (ORCID: https://orcid.org/0000-0001-9038-0067)
- Elfride De Baere (ORCID: https://orcid.org/0000-0002-5609-6895)
- Tina M. Lamey (ORCID: https://orcid.org/0000-0002-4608-4073)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Maria M. van Genderen (ORCID: https://orcid.org/0000-0002-9286-8397)
- Carel B. Hoyng (ORCID: https://orcid.org/0000-0002-1358-5963)
- Marion van Vugt (ORCID: https://orcid.org/0000-0002-6634-1989)
- Robert K. Koenekoop
- Isabelle Meunier
Institutions
- University of Leeds (GB)
- Radboud University Nijmegen (NL)
- University of Leicester (GB)
- Inserm (FR)
- University of Cape Town (ZA)
- Vilnius University (LT)
- The University of Western Australia (AU)
- University of Basel (CH)
- University of Campania "Luigi Vanvitelli" (IT)
- Université de Montpellier (FR)
- Trinity College Dublin (IE)
- Medical University of Warsaw (PL)
- Leiden University Medical Center (NL)
- Ghent University Hospital (BE)
- St James's University Hospital (GB)
- McGill University Health Centre (CA)
- Sir Charles Gairdner Hospital (AU)
- Radboud University Medical Center (NL)
- St John of Jerusalem Eye Hospital Group (IL)
- University Medical Center Utrecht (NL)
- Ghent University (BE)
- Rotterdam Eye Hospital (NL)
- Institute for Neurosciences of Montpellier (FR)
- STZ eyetrial (DE)
- Amsterdam University Medical Centers (NL)
- Telethon Institute Of Genetics And Medicine (IT)
- Bartiméus (NL)
- Institute of Molecular and Clinical Ophthalmology Basel (CH)
- University of Tübingen (DE)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1167/iovs.66.2.55
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Science Foundation
- European Commission
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung