{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.",
    "Department of Ophthalmology & Visual Sciences, McGill University, Montreal, QC H4A 3S5, Canada.",
    "Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Centre Universitaire Affilié à l'Université de Montréal, Montreal, QC H1T 3W5, Canada.",
    "Faculty of Medicine, University of Montreal, Montréal, QC H3T 1J4, Canada.",
    "Department of Ophthalmology, Centre Universitaire d'Ophtalmologie (CUO), Hôpital Maisonneuve-Rosemont, University of Montreal, Montréal, QC H1T 3W5, Canada."
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Nicolas Tuli"
    },
    {
      "affs": [
        1
      ],
      "name": "Moath Baeshen",
      "orcid": "0000-0001-6716-9343"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Mohamed Echbicheb"
    },
    {
      "affs": [
        1
      ],
      "name": "Merve Kulbay",
      "orcid": "0000-0003-2756-3973"
    },
    {
      "affs": [
        1
      ],
      "name": "Anfisa Ayalon"
    },
    {
      "affs": [
        2
      ],
      "name": "Shigufa Kahn Ali",
      "orcid": "0009-0000-4756-5613"
    },
    {
      "affs": [
        2,
        3,
        4
      ],
      "name": "Cynthia X Qian",
      "orcid": "0009-0004-3302-5754"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ee9ygd2rpddrs.bib",
  "cited_by": 0,
  "doi": "10.3390/vision10040083",
  "fulltext_url": "https://europepmc.org/articles/PMC13709340",
  "id": "ee9ygd2rpddrs",
  "issns": [
    "2411-5150"
  ],
  "landing_url": "https://europepmc.org/article/MED/42931621",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "QH301-705.5"
    ],
    [
      "openalex",
      "1312|Retinal Development and Disorders"
    ]
  ],
  "openalex": "W7221751015",
  "pdf_url": "https://europepmc.org/articles/PMC13709340?pdf=render",
  "pmcid": "PMC13709340",
  "pmid": "42931621",
  "published": "2026-10-14",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/ee9ygd2rpddrs.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:22:01Z",
      "native_id": "MED:42931621",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42931621"
    },
    {
      "first_seen": "2026-10-31T14:21:37Z",
      "native_id": "080d0d35bbea4077a2eca5dde59b8f69",
      "source": "doaj",
      "url": "https://doi.org/10.3390/vision10040083"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Retinal Development and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Retinitis Pigmentosa: A Review of Its Pathogenesis and Emerging Molecular and Cellular Therapies.",
  "title_text": "Retinitis Pigmentosa: A Review of Its Pathogenesis and Emerging Molecular and Cellular Therapies.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T14:21:37Z",
  "url": "https://research.draconitic.com/paper/ee9ygd2rpddrs",
  "venue": "Vision (Basel, Switzerland)",
  "versions": []
}