{
  "abstract": "Purpose: Lens dislocation (ectopia lentis) is a recognized anterior-segment manifestation of fibrillinopathy. This exploratory phenotype-first study compared macular optical coherence tomography angiography (OCTA) parameters between participants with and without documented lens dislocation and descriptively reviewed available archived clinical FBN1 reports. Methods: This retrospective, availability-based study included 16 participants classified by verified current or historical lens-dislocation status. Participant-level superficial capillary plexus (SCP) vessel density was calculated by averaging valid bilateral measurements or using the single valid eye. Five OCTA endpoints were compared using two-sided Mann–Whitney U tests; Benjamini–Hochberg q values were used as a multiplicity sensitivity analysis. Seven archived clinical FBN1 reports from lens-dislocation-positive (LD+) participants were summarized without variant reclassification. No genotype–OCTA association was assessed. Results: The cohort comprised 7 LD+ and 9 lens-dislocation-negative (LD−) participants; 15 participants (6 LD+ and 9 LD−) contributed quantitative OCTA data. Foveal SCP vessel density was lower in LD+ participants (median [IQR], 19.38% [18.68–20.04] vs 30.20% [29.20–31.85]; p = 0.036), but the finding was not retained after multiplicity sensitivity analysis (q = 0.180). Whole-image, parafoveal, and perifoveal vessel-density comparisons were not significant (p = 0.328, 0.272, and 0.238; q = 0.410 each), and OD-only foveal avascular zone area did not differ (n = 14; p = 0.606; q = 0.606). Six of seven archived reports documented an FBN1 variant; one was negative within its assay scope. Conclusions: The unadjusted foveal signal was not robust to multiplicity analysis, and other OCTA endpoints did not differ significantly. Marked between-group differences in spherical equivalent and axial length, the small sample, and heterogeneous routine-care genetic reports limit interpretation. These findings are hypothesis-generating and do not establish OCTA as a diagnostic or prognostic test or demonstrate an individual-level genotype–OCTA association.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medical Genetics, Adiyaman University Faculty of Medicine, Adiyaman, Türkiye.",
    "Department of Ophthalmology, Beyoglu Eye Training and Research Hospital, Istanbul, Türkiye.",
    "Department of Ophthalmology, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Türkiye."
  ],
  "article_type": "Research Article",
  "arxiv": null,
  "author_total": 4,
  "authors": [
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        0
      ],
      "name": "Muhammer Özgür Çevik",
      "orcid": "0000-0002-3131-0795"
    },
    {
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        1
      ],
      "name": "Metehan Simsek"
    },
    {
      "affs": [
        1
      ],
      "name": "Sadik Gorkem Cevik"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Irfan Perente"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/a9ebmdmv8zmqg.bib",
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  "doi": "10.1371/journal.pone.0361193",
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    "1932-6203"
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  "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": [
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  "pmid": "42912778",
  "published": "2026-10-23",
  "publisher": "Public Library of Science",
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  "title": "Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study",
  "title_text": "Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study",
  "type": "peer-reviewed",
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