Skip to content
DraconiticResearch
Search Sources API
197,688 studies31 sourcesUpdated 9 min ago
Peer-reviewedCC BYVision (Basel, Switzerland)

Retinitis Pigmentosa: A Review of Its Pathogenesis and Emerging Molecular and Cellular Therapies.

  • Nicolas Tuli1
  • Moath Baeshen2
  • Mohamed Echbicheb3,4
  • Merve Kulbay2
  • Anfisa Ayalon2
  • Shigufa Kahn Ali3
  • Cynthia X Qian3,4,5
5 affiliations
  1. 1Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.
  2. 2Department of Ophthalmology & Visual Sciences, McGill University, Montreal, QC H4A 3S5, Canada.
  3. 3Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Centre Universitaire Affilié à l'Université de Montréal, Montreal, QC H1T 3W5, Canada.
  4. 4Faculty of Medicine, University of Montreal, Montréal, QC H3T 1J4, Canada.
  5. 5Department of Ophthalmology, Centre Universitaire d'Ophtalmologie (CUO), Hôpital Maisonneuve-Rosemont, University of Montreal, Montréal, QC H1T 3W5, Canada.
Read full textPDFDOICite

Abstract

Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy and remains largely untreatable. This review summarizes RP pathogenesis and critically appraises emerging therapeutic strategies, including gene augmentation, gene editing, RNA-based therapies, gene-agnostic and neuroprotective approaches, stem-cell therapy and their delivery platforms. We compare these strategies according to mutation mechanism, disease stage, durability, delivery route, and current level of clinical evidence. Although several approaches have shown improved structural and functional outcomes in preclinical and early-phase studies, RPE65-directed gene augmentation (voretigen neparvovec) remains the only approved therapy, and even it does not halt degeneration. For most modalities, long-term efficacy, safety, durability and clinical validation are not yet established, and translation is further constrained by delivery, immunogenicity, manufacturing, and cost. Rather than a realized paradigm shift, current evidence points to a rapidly advancing but still largely investigational field with successful clinical translation remaining elusive.

Related

  1. Variable clinical course of retinitis pigmentosa patients with RPE65 gene mutations
    Hiroaki Ushida, Taro Kominami, Kensuke Goto +8
    Scientific ReportsPeer-reviewedCC BY-NC-ND 4.0Full textMolecular biology & gene regulationCrossref
  2. The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles
    Marianna Weener, Igor Hatsenko, Inna Zolnikova +7
    Frontiers in geneticsPeer-reviewedCC BYFull textGeneral biochemistryEurope PMC
  3. Unilateral subretinal administration of HORA-PDE6β in patients with retinitis pigmentosa harbouring mutations in the PDE6β gene: study protocol of HORA-PDE6β-001 phase I/II clinical trial.
    Jean-Baptiste Ducloyer, Guylène Le Meur, Alexandra Poinas +16
    BMJ open ophthalmologyPeer-reviewedCC BY-NCFull textMolecular biology & gene regulationEurope PMC
  4. Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa
    Viviana Cordeddu, Riccardo Sangermano, Sterre W. M. Mulder +38
    JAMA OphthalmologyPeer-reviewedLicence not statedFull textMolecular biology & gene regulationPMC
  5. Generation of retinitis pigmentosa patient-derived hiPSC lines (IDVi007-A, IDVi007-B) carrying the RHO c.68C > A variant (p.P23H) and CRISPR/Cas9-corrected isogenic hiPSC lines (IDVi007-A-1, IDVi007-A-2, IDVi007-A-3)
    Marilou Clémençon, Jérémy Brogard, Marie Rozen +7
    Stem Cell ResearchPeer-reviewedCC BY-NC-NDMolecular biology & gene regulationHAL

Cite

BibTeXRIS
BibTeX
@article{tuli2026retinitis,
  title = {{Retinitis Pigmentosa: A Review of Its Pathogenesis and Emerging Molecular and Cellular Therapies.}},
  author = {Nicolas Tuli and Moath Baeshen and Mohamed Echbicheb and Merve Kulbay and Anfisa Ayalon and Shigufa Kahn Ali and Cynthia X Qian},
  journal = {Vision (Basel, Switzerland)},
  year = {2026},
  month = oct,
  doi = {10.3390/vision10040083},
  url = {https://europepmc.org/article/MED/42931621},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Retinitis Pigmentosa: A Review of Its Pathogenesis and Emerging Molecular and Cellular Therapies.
AU  - Nicolas Tuli
AU  - Moath Baeshen
AU  - Mohamed Echbicheb
AU  - Merve Kulbay
AU  - Anfisa Ayalon
AU  - Shigufa Kahn Ali
AU  - Cynthia X Qian
PY  - 2026
DA  - 2026/10/14
JO  - Vision (Basel, Switzerland)
DO  - 10.3390/vision10040083
UR  - https://europepmc.org/article/MED/42931621
AB  - Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy and remains largely untreatable. This review summarizes RP pathogenesis and critically appraises emerging therapeutic strategies, including gene augmentation, gene editing, RNA-based therapies, gene-agnostic and neuroprotective approaches, stem-cell therapy and their delivery platforms. We compare these strategies according to mutation mechanism, disease stage, durability, delivery route, and current level of clinical evidence. Although several approaches have shown improved structural and functional outcomes in preclinical and early-phase studies, RPE65-directed gene augmentation (voretigen neparvovec) remains the only approved therapy, and even it does not halt degeneration. For most modalities, long-term efficacy, safety, durability and clinical validation are not yet established, and translation is further constrained by delivery, immunogenicity, manufacturing, and cost. Rather than a realized paradigm shift, current evidence points to a rapidly advancing but still largely investigational field with successful clinical translation remaining elusive.
SN  - 2411-5150
ER  -