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Peer-reviewedLicence not statedJAMA Ophthalmology

Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa

  • Viviana Cordeddu1
  • Riccardo Sangermano2
  • Sterre W. M. Mulder3,4
  • Hafiz Muhammad Jafar Hussain5
  • Elisabetta Flex1
  • Luca Mignini6
  • Marialetizia Motta6
  • Alessandro Bruselles1
  • Maria Beatrice Arasi1,6
  • Serena Cecchetti7
  • Mattia Carvetta6,8
  • Marcello Niceta6
29 more authors
  • Antonella Lauri6
  • Alessandro Leone1,9
  • Graziamaria Paradisi6
  • Puja A. Mehta2,10,11
  • Li Yumei12
  • Meng Wang12
  • Wadih M. Zein13
  • Stefanida Shliaga3
  • Lonneke Haer Wigman3
  • Yoeri van Leeuwen14
  • Caroline C. W. Klaver4,14,15,16,17
  • Ronald Pennings18
  • L. Ingeborgh van den Born19
  • Ayellet V. Segrè2,10,11
  • Eric A. Pierce2
  • Rob W. J. Collin3,4
  • Carmen Dell’Aquila20
  • Lucilla Barbano20
  • Bin Guan13
  • Emily M. Place2
  • Siying Lin21,22,23,24
  • Andrew R. Webster23,24
  • Mariya Moosajee24,25
  • Rui Chen12
  • Gavin Arno23,24,26
  • Susanne Roosing3,4
  • Lucia Ziccardi20,27
  • Kinga M. Bujakowska2
  • Marco Tartaglia6
27 affiliations
  1. 1Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy
  2. 2Ocular Genomics Institute, Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts
  3. 3Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
  4. 4Lifelong VISION consortium, the Netherlands
  5. 5Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
  6. 6Molecular Genetics and Functional Genomics Research Division, Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
  7. 7Confocal Microscopy Unit–Core Facilities, Istituto Superiore di Sanità, Rome, Italy
  8. 8Department of Biochemical Sciences “Alessandro Rossi Fanelli,” Sapienza University of Rome, Rome, Italy
  9. 9Department of Humanities, Law and Economics, Università Telematica Leonardo da Vinci (UNIDAV), Torrevecchia Teatina, Chieti, Italy
  10. 10Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts
  11. 11Broad Institute of Harvard and MIT, Cambridge, Massachusetts
  12. 12Department of Ophthalmology and Visual Sciences, Robert M. Brunson Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine
  13. 13Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
  14. 14Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands
  15. 15Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands
  16. 16Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands
  17. 17Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland
  18. 18Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands
  19. 19The Rotterdam Eye Hospital, BH Rotterdam, the Netherlands
  20. 20Clinical and Research Center of Neurophthalmology and Genetic and Rare Diseases of the Eye, IRCCS–Fondazione Bietti, Rome, Italy
  21. 21Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom
  22. 22Manchester Centre for Genomic Medicine, Saint Mary’s Hospital and Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom
  23. 23National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom
  24. 24Institute of Ophthalmology, University College London, London, United Kingdom
  25. 25The Francis Crick Institute, London, United Kingdom
  26. 26Division of Research, Greenwood Genetic Center, Greenwood, South Carolina
  27. 27Department of Medicine and Health Sciences “V. Tiberio,” University of Molise, Campobasso, Italy
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Cite

BibTeXRIS
BibTeX
@article{cordeddu2026biallelic,
  title = {{Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa}},
  author = {Viviana Cordeddu and Riccardo Sangermano and Sterre W. M. Mulder and Hafiz Muhammad Jafar Hussain and Elisabetta Flex and Luca Mignini and Marialetizia Motta and Alessandro Bruselles and Maria Beatrice Arasi and Serena Cecchetti and Mattia Carvetta and Marcello Niceta and Antonella Lauri and Alessandro Leone and Graziamaria Paradisi and Puja A. Mehta and Li Yumei and Meng Wang and Wadih M. Zein and Stefanida Shliaga and Lonneke Haer Wigman and Yoeri van Leeuwen and Caroline C. W. Klaver and Ronald Pennings and L. Ingeborgh van den Born and Ayellet V. Segrè and Eric A. Pierce and Rob W. J. Collin and Carmen Dell’Aquila and Lucilla Barbano and Bin Guan and Emily M. Place and Siying Lin and Andrew R. Webster and Mariya Moosajee and Rui Chen and Gavin Arno and Susanne Roosing and Lucia Ziccardi and Kinga M. Bujakowska and Marco Tartaglia},
  journal = {JAMA Ophthalmology},
  year = {2026},
  month = oct,
  doi = {10.1001/jamaophthalmol.2026.4692},
  url = {https://doi.org/10.1001/jamaophthalmol.2026.4692},
}
RIS
TY  - JOUR
TI  - Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa
AU  - Viviana Cordeddu
AU  - Riccardo Sangermano
AU  - Sterre W. M. Mulder
AU  - Hafiz Muhammad Jafar Hussain
AU  - Elisabetta Flex
AU  - Luca Mignini
AU  - Marialetizia Motta
AU  - Alessandro Bruselles
AU  - Maria Beatrice Arasi
AU  - Serena Cecchetti
AU  - Mattia Carvetta
AU  - Marcello Niceta
AU  - Antonella Lauri
AU  - Alessandro Leone
AU  - Graziamaria Paradisi
AU  - Puja A. Mehta
AU  - Li Yumei
AU  - Meng Wang
AU  - Wadih M. Zein
AU  - Stefanida Shliaga
AU  - Lonneke Haer Wigman
AU  - Yoeri van Leeuwen
AU  - Caroline C. W. Klaver
AU  - Ronald Pennings
AU  - L. Ingeborgh van den Born
AU  - Ayellet V. Segrè
AU  - Eric A. Pierce
AU  - Rob W. J. Collin
AU  - Carmen Dell’Aquila
AU  - Lucilla Barbano
AU  - Bin Guan
AU  - Emily M. Place
AU  - Siying Lin
AU  - Andrew R. Webster
AU  - Mariya Moosajee
AU  - Rui Chen
AU  - Gavin Arno
AU  - Susanne Roosing
AU  - Lucia Ziccardi
AU  - Kinga M. Bujakowska
AU  - Marco Tartaglia
PY  - 2026
DA  - 2026/10/29
JO  - JAMA Ophthalmology
DO  - 10.1001/jamaophthalmol.2026.4692
UR  - https://doi.org/10.1001/jamaophthalmol.2026.4692
SN  - 2168-6165
SN  - 2168-6173
ER  -