PloS one · 2026
Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study.
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Çevik Muhammer Özgür, Simsek Metehan, Cevik Sadik Gorkem, Perente Irfan
Аннотация
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.
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.