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.

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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

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article

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Mattias Van Heetvelde, Adriana I. Iglesias, Tanguy Demaret, Cheryl Y. Gregory‐Evans et al.
1 citations
Investigative Ophthalmology & Visual Science
Retinal Development and Disorders
0.81
article

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Mattias Van Heetvelde, Adriana I. Iglesias, Tanguy Demaret, Cheryl Y. Gregory‐Evans, Karin Dahan, Vasily Smirnov, Susanne Kohl, Sascha Vermeer, Sheetal Uppal, Bart P. Leroy, Ian M. MacDonald, Eugenia Poliakov, T. Michael Redmond, Luc Van Os, Florence Andrée Rasquin, Miriam Bauwens, Julie De Zaeytijd, Sari Tuupanen, Narin Sheri, Joke Ruys, Julie A. Jacob, Theresia Zuleger, Filip Van den Broeck, Alberta A. H. J. Thiadens, Elise Platteau, Laurence Dominique Postelmans, Claire‐Marie Dhaenens, Stijn Van de Sompele, Elfride De Baere, Marieke De Bruyne, Kirk Stephenson, Isabelle Maystadt, Quinten Mahieu, Kevin Gregory‐Evans, Lies H. Hoefsloot, Eline Van Vooren, Eline Geens
article en
1 citations

Abstract

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.

Investigative Ophthalmology & Visual ScienceVol. 66(12)
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)
Université de Lille, Fonds Wetenschappelijk Onderzoek, Universiteit Gent, Vlaamse regering, National Institutes of Health, Horizon 2020 Framework Programme, Bijzonder Onderzoeksfonds UGent, National Eye Institute
Openalex Percentile: Top 23%
Retinal Development and Disorders
0.81
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