RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals
The discovery of a dominant RPE65-IRD due to founder variant p.(E519K) reduces the diagnostic gap in dominant IRD and highlights a novel target for therapy.
Authors
- Mattias Van Heetvelde (ORCID: https://orcid.org/0000-0001-5758-0366)
- Adriana I. Iglesias (ORCID: https://orcid.org/0000-0001-5532-764X)
- Tanguy Demaret (ORCID: https://orcid.org/0000-0001-7605-9031)
- Cheryl Y. Gregory‐Evans (ORCID: https://orcid.org/0000-0001-8613-0460)
- Karin Dahan (ORCID: https://orcid.org/0000-0003-3036-7981)
- Vasily Smirnov (ORCID: https://orcid.org/0000-0003-4172-514X)
- Susanne Kohl (ORCID: https://orcid.org/0000-0002-6438-6331)
- Sascha Vermeer (ORCID: https://orcid.org/0000-0001-7625-1912)
- Sheetal Uppal (ORCID: https://orcid.org/0000-0002-3685-8602)
- Bart P. Leroy (ORCID: https://orcid.org/0000-0002-9899-2081)
- Ian M. MacDonald (ORCID: https://orcid.org/0000-0001-7472-8385)
- Eugenia Poliakov (ORCID: https://orcid.org/0000-0003-3865-8054)
- T. Michael Redmond (ORCID: https://orcid.org/0000-0002-1813-5291)
- Luc Van Os (ORCID: https://orcid.org/0000-0001-7879-4232)
- Florence Andrée Rasquin
- Miriam Bauwens (ORCID: https://orcid.org/0000-0003-0402-9006)
- Julie De Zaeytijd (ORCID: https://orcid.org/0000-0003-4035-6389)
- Sari Tuupanen
- Narin Sheri
- Joke Ruys
- Julie A. Jacob (ORCID: https://orcid.org/0000-0002-4716-6820)
- Theresia Zuleger (ORCID: https://orcid.org/0009-0001-4351-3426)
- Filip Van den Broeck (ORCID: https://orcid.org/0009-0006-3330-6497)
- Alberta A. H. J. Thiadens (ORCID: https://orcid.org/0000-0002-4911-9462)
- Elise Platteau
- Laurence Dominique Postelmans (ORCID: https://orcid.org/0000-0001-5333-3077)
- Claire‐Marie Dhaenens (ORCID: https://orcid.org/0000-0003-4719-4124)
- Stijn Van de Sompele (ORCID: https://orcid.org/0000-0002-3294-0668)
- Elfride De Baere (ORCID: https://orcid.org/0000-0002-5609-6895)
- Marieke De Bruyne (ORCID: https://orcid.org/0000-0001-6636-5537)
- Kirk Stephenson (ORCID: https://orcid.org/0000-0002-7462-7725)
- Isabelle Maystadt (ORCID: https://orcid.org/0000-0001-7170-8186)
- Quinten Mahieu (ORCID: https://orcid.org/0000-0002-0850-1745)
- Kevin Gregory‐Evans (ORCID: https://orcid.org/0000-0003-3572-3105)
- Lies H. Hoefsloot (ORCID: https://orcid.org/0009-0000-3444-9955)
- Eline Van Vooren (ORCID: https://orcid.org/0000-0002-8731-1199)
- Eline Geens
Institutions
- Centre National de la Recherche Scientifique (FR)
- National Institutes of Health (US)
- Université Libre de Bruxelles (BE)
- Children's Hospital of Philadelphia (US)
- Institut de la Vision (FR)
- University of British Columbia (CA)
- University of Alberta (CA)
- Inserm (FR)
- Université de Lille (FR)
- Universitair Ziekenhuis Leuven (BE)
- Ghent University Hospital (BE)
- Centre Hospitalier Universitaire de Lille (FR)
- Ghent University (BE)
- Sorbonne Université (FR)
- Institute of Pathology and Genetics (BE)
- Antwerp University Hospital (BE)
- Centre Hospitalier Universitaire Brugmann (BE)
- Blueprint Genetics (Finland) (FI)
- Vlaamse Vereniging voor Obstetrie en Gynaecolo (BE)
- National Eye Institute (US)
- AZ Maria Middelares (BE)
- STZ eyetrial (DE)
- University of Tübingen (DE)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-09-23
- DOI
- https://doi.org/10.1167/iovs.66.12.53
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Université de Lille
- Fonds Wetenschappelijk Onderzoek
- Universiteit Gent
- Vlaamse regering
- National Institutes of Health
- Horizon 2020 Framework Programme
- Bijzonder Onderzoeksfonds UGent
- National Eye Institute