{
  "abstract": "Purpose\n\nTo define the allelic architecture and phenotypic spectrum of RP1-associated retinal dystrophies in a large Korean cohort, emphasizing recurrent truncating alleles, phasing of linked variants, and mobile-element insertions (MEIs) underdetected by standard next-generation sequencing.Methods\n\nThis retrospective multicenter study included 143 patients with RP1-associated retinopathy sequenced at eight centers in Korea (2002-2025). Clinical findings, multimodal imaging, and electrophysiology were evaluated. Structural variants and allelic phase were assessed using an integrative genomics viewer-based soft-clipping review, Alu-PCR, and long-read whole-genome sequencing (lrWGS) in selected cases. Patients were classified as autosomal-dominant retinitis pigmentosa (AD-RP), autosomal-recessive RP (AR-RP), or recessive macular or cone(-rod) dystrophies.Results\n\nTwenty-seven RP1 variants were identified, including nine novel alleles. All AD-RP cases were explained by seven exon 4 truncations within the dominant cluster. AR disease was dominated by three highly recurrent truncating alleles: c.4196del (p.Cys1399Leufs*5, carried by 32.2% of patients), the hypomorphic truncation c.5797C>T (p.Arg1933*, 30.8%), and c.6181del (p.Ile2061Serfs*12, 31.5%). The downstream missense variant c.6353G > A (p.Ser2118Asn) was consistently observed in cis with c.4196del, whereas c.4196del also occurred independently; this phase relationship was confirmed by lrWGS. The Alu insertion c.4052_4053ins328 (p.Tyr1352Alafs*9) was carried by 14% of patients. AR-RP presented earlier (mean onset 16.9 vs. 33.5 years, P < 0.001) and had poorer baseline worse-eye best-corrected visual acuity (logMAR, 1.05 vs. 0.44, P = 0.002) than AD-RP.Conclusions\n\nThis large ancestry-specific RP1-associated retinal dystrophy cohort refines the allelic landscape and underscores the importance of phasing and MEI-aware testing strategies, revealing broad phenotypic expansion to macular and cone(-rod) dystrophies and genotype-dependent severity profiles.",
  "abstract_shown": true,
  "affiliations": [
    "Seoul National University College of Medicine, Seoul, South Korea.",
    "Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea.",
    "Keye Eye Center, Seoul, South Korea.",
    "Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, South Korea.",
    "Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.",
    "Institute of Vision Research, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.",
    "Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.",
    "Department of Ophthalmology, Yeungnam University College of Medicine, Yeungnam University Medical Center, Daegu, South Korea.",
    "Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea.",
    "Department of Ophthalmology, Konkuk University College of Medicine, Seoul, South Korea.",
    "Department of Ophthalmology, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, South Korea."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 23,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Yunnie Cho"
    },
    {
      "affs": [
        1
      ],
      "name": "Kwangsic Joo"
    },
    {
      "affs": [
        2
      ],
      "name": "Sohee Jeon"
    },
    {
      "affs": [
        3
      ],
      "name": "Eun Kyoung Lee"
    },
    {
      "affs": [
        1
      ],
      "name": "Jae Shin Song"
    },
    {
      "affs": [
        4
      ],
      "name": "Sungsoon Hwang"
    },
    {
      "affs": [
        5
      ],
      "name": "Jinu Han"
    },
    {
      "affs": [
        5
      ],
      "name": "Jay Jiyong Kwak"
    },
    {
      "affs": [
        5
      ],
      "name": "Suk Ho Byeon"
    },
    {
      "affs": [
        5
      ],
      "name": "Min Kim"
    },
    {
      "affs": [
        5
      ],
      "name": "Yong Joon Kim"
    },
    {
      "affs": [
        6
      ],
      "name": "Junwon Lee"
    },
    {
      "affs": [
        3
      ],
      "name": "Chang Ki Yoon"
    },
    {
      "affs": [
        7
      ],
      "name": "Min Sagong"
    },
    {
      "affs": [
        7
      ],
      "name": "Areum Jeong"
    },
    {
      "affs": [
        8
      ],
      "name": "Mirinae Kim"
    },
    {
      "affs": [
        8
      ],
      "name": "Ji Hye Lee"
    },
    {
      "affs": [
        9
      ],
      "name": "Hyewon Chung"
    },
    {
      "affs": [
        9
      ],
      "name": "Hyeong Min Kim"
    },
    {
      "affs": [
        10
      ],
      "name": "Dong Ho Park"
    },
    {
      "affs": [
        4
      ],
      "name": "Sang Jin Kim"
    },
    {
      "affs": [
        5
      ],
      "name": "Christopher Seungkyu Lee"
    },
    {
      "affs": [
        1
      ],
      "name": "Se Joon Woo"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4bv9yhq4d6z83.bib",
  "cited_by": 0,
  "doi": "10.1167/iovs.67.12.17",
  "fulltext_url": "https://europepmc.org/articles/PMC13674663",
  "id": "4bv9yhq4d6z83",
  "issns": [
    "0146-0404",
    "1552-5783"
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  "landing_url": "https://europepmc.org/article/MED/42847597",
  "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"
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  "openalex": "W7220996938",
  "pdf_url": "https://europepmc.org/articles/PMC13674663?pdf=render",
  "pmcid": "PMC13674663",
  "pmid": "42847597",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/4bv9yhq4d6z83.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:10Z",
      "native_id": "MED:42847597",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42847597"
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  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Retinal Development and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.",
  "title_text": "Allelic Architecture and Clinical Spectrum of RP1-Associated Retinal Dystrophies in a Multicenter Korean Cohort.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:18:10Z",
  "url": "https://research.draconitic.com/paper/4bv9yhq4d6z83",
  "venue": "Investigative ophthalmology & visual science",
  "versions": []
}