{
  "abstract": "Purpose: Retinol dehydrogenase 5 (RDH5) catalyzes the final oxidation for visual pigment regeneration of 11-cis-retinal as part of the visual cycle in the retinal pigment epithelium (RPE). In humans, RDH5 mutations cause fundus albipunctatus characterized by night blindness, accumulation of white-yellowish fundus spots, and, in a subset of patients, macular degeneration. Currently, there is an unmet need for therapies for patients with RDH5 mutations. Using a large-animal cat model of RDH5-associated disease (RDH5−/−), this study aimed to meet these needs through development of a gene augmentation therapy able to rescue RDH5-associated retinopathies.\n\nMethods: An adeno-associated virus serotype 2 with triple capsid mutations vector packaged with feline RDH5 cDNA (AAV-VMD2-fRDH5) was subretinally injected into 12 RDH5−/− cats. To assess expression and the impact of treatment on retinal function and structure, immunohistochemistry, high-performance liquid chromatography, rod and cone electroretinograms, spectral-domain optical coherence tomography, and semi-thin resin-embedded sectioning were performed.\n\nResults: The expression of the RDH5 transgene improved rod and cone photoreceptor functional recovery following light exposure and shows promise in slowing/halting area centralis (analogous to the human macula) degeneration.\n\nConclusions: This gene augmentation therapy is a promising approach for the treatment of RDH5-associated retinopathies.",
  "abstract_shown": true,
  "affiliations": [
    "Genetics and Genome Sciences, Michigan State University, East Lansing, Michigan, United States",
    "Small Animal Clinical Sciences, Michigan State University, East Lansing, Michigan, United States",
    "Department of Physiology and Biophysics, University of California, Irvine, Irvine, California, United States",
    "Brunson Center for Translational Vision Research, Department of Ophthalmology and Visual Sciences, University of California, Irvine, Irvine, California, United States",
    "Ophthalmology Services, Charles River Laboratories, Mattawan, Michigan, United States",
    "Department of Clinical Pharmacy Practice, School of Pharmacy and Pharmaceutical Sciences, University of California, Irvine, Irvine, California, United States",
    "Research Service, VA Long Beach Healthcare System, Long Beach, California, United States"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Laura M. Ford"
    },
    {
      "affs": [
        1
      ],
      "name": "Kelian Sun"
    },
    {
      "affs": [
        1
      ],
      "name": "Laurence M. Occelli"
    },
    {
      "affs": [
        1
      ],
      "name": "Mary E. Enfield"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Anahita Daruwalla"
    },
    {
      "affs": [
        4
      ],
      "name": "Ryan F. Boyd"
    },
    {
      "affs": [
        2,
        3,
        5,
        6
      ],
      "name": "Philip D. Kiser"
    },
    {
      "affs": [
        1
      ],
      "name": "Simon M. Petersen-Jones"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/c9j40jxr9s3b9.bib",
  "cited_by": 0,
  "doi": "10.1167/iovs.67.12.45",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13712387/",
  "id": "c9j40jxr9s3b9",
  "issns": [
    "0146-0404",
    "1552-5783"
  ],
  "landing_url": "https://doi.org/10.1167/iovs.67.12.45",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Retina"
    ],
    [
      "openalex",
      "1312|Retinal Development and Disorders"
    ]
  ],
  "openalex": "W7223122847",
  "pdf_url": null,
  "pmcid": "PMC13712387",
  "pmid": "42904881",
  "published": "2026-10-21",
  "publisher": "Association for Research in Vision and Ophthalmology",
  "ris": "https://research.draconitic.com/paper/c9j40jxr9s3b9.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T12:22:59Z",
      "native_id": "PMC13712387",
      "source": "pmc",
      "url": "https://doi.org/10.1167/iovs.67.12.45"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Retinal Development and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "AAV Gene Augmentation Therapy Rescues the Phenotype in the RDH5−/− Cat Model of Fundus Albipunctatus",
  "title_text": "AAV Gene Augmentation Therapy Rescues the Phenotype in the RDH5−/− Cat Model of Fundus Albipunctatus",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T12:22:59Z",
  "url": "https://research.draconitic.com/paper/c9j40jxr9s3b9",
  "venue": "Investigative Ophthalmology & Visual Science",
  "versions": []
}