Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study
- 1Department of Medical Genetics, Adiyaman University Faculty of Medicine, Adiyaman, Türkiye.
- 2Department of Ophthalmology, Beyoglu Eye Training and Research Hospital, Istanbul, Türkiye.
- 3Department of Ophthalmology, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Türkiye.
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.
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BibTeX
@article{cevik2026lens,
title = {{Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study}},
author = {Muhammer Özgür Çevik and Metehan Simsek and Sadik Gorkem Cevik and Irfan Perente},
journal = {PLOS One},
year = {2026},
month = oct,
doi = {10.1371/journal.pone.0361193},
url = {https://doi.org/10.1371/journal.pone.0361193},
note = {CC BY},
}
RIS
TY - JOUR
TI - Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study
AU - Muhammer Özgür Çevik
AU - Metehan Simsek
AU - Sadik Gorkem Cevik
AU - Irfan Perente
PY - 2026
DA - 2026/10/23
JO - PLOS One
DO - 10.1371/journal.pone.0361193
UR - https://doi.org/10.1371/journal.pone.0361193
AB - 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.
SN - 1932-6203
ER -