{
  "abstract": "Purpose\n\nTo characterize the clinical manifestations, genetic landscape, and natural history of RP1-associated retinopathy in a Chinese cohort.Methods\n\nThis longitudinal cohort study enrolled and followed 49 patients with genetically confirmed RP1-associated retinopathy. Phenotyping included visual acuity (VA), visual field, full-field stimulus testing (FST), microperimetry, and multimodal imaging. Genetic analysis and variant interpretation followed American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines.Results\n\nThe cohort predominantly presented with retinitis pigmentosa (RP, 91.8%) and bilateral involvement, with overall no significant interocular differences in major functional parameters (all P > 0.05). Median symptom onset age was 20 years (interquartile range, 7.25-33.75). On linear regression analysis, earlier onset age (P = 0.024) and longer disease duration (P = 0.019) correlated with worse VA. Kaplan-Meier analysis estimated that the median age at which patients reached blindness (>1.3 logarithm of the minimum angle of resolution [logMAR]) was 74 years. Quantified decline rates included VA (0.015 logMAR/year) and visual field index (-7.8%/year) in the first decade and FST (0.167 log cd·s/m2/year) and retinal sensitivity (-1.22 dB/year) over two decades. Classic bone-spicule pigmentation was absent in 33.3% of patients. Genetic analysis identified 46 variants; truncating mutations (71.7%) clustered in exon 4, with c.5797C>T as a founder variant (16.3% of alleles). Variants within the upstream one-third of exon 4 were associated with later onset (P = 0.049).Conclusions\n\nRP1-associated retinopathy manifests as bilateral, atypical RP with quantifiable, duration-dependent decline and a genotype-phenotype correlation linking upstream exon 4 variants to later onset.Translational relevance\n\nQuantified progression rates and genotype-phenotype correlations inform clinical trial endpoints and patient counseling.",
  "abstract_shown": true,
  "affiliations": [
    "Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.",
    "Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China.",
    "Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China.",
    "Qingdao Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Hong-Li Liu"
    },
    {
      "affs": [
        0,
        1,
        2,
        3
      ],
      "name": "Ting Li"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Ping Xu"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Sheng-Hai Zhang"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Ji-Hong Wu"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/15zew7245jvj1.bib",
  "cited_by": 0,
  "doi": "10.1167/tvst.15.10.3",
  "fulltext_url": "https://europepmc.org/articles/PMC13657128",
  "id": "15zew7245jvj1",
  "issns": [
    "2164-2591"
  ],
  "landing_url": "https://europepmc.org/article/MED/42831732",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1312|Retinal Development and Disorders"
    ]
  ],
  "openalex": "W7220436168",
  "pdf_url": "https://europepmc.org/articles/PMC13657128?pdf=render",
  "pmcid": "PMC13657128",
  "pmid": "42831732",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/15zew7245jvj1.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:10Z",
      "native_id": "MED:42831732",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42831732"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Retinal Development and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Unraveling RP1-Associated Retinal Dystrophies: Comprehensive Genetic, Clinical, and Disease Progression Analysis in China.",
  "title_text": "Unraveling RP1-Associated Retinal Dystrophies: Comprehensive Genetic, Clinical, and Disease Progression Analysis in China.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:18:10Z",
  "url": "https://research.draconitic.com/paper/15zew7245jvj1",
  "venue": "Translational vision science & technology",
  "versions": []
}