Exploratory OCTA study probes macular vessel density in lens dislocation

An exploratory phenotype-first study has examined whether lens dislocation, a recognized anterior-segment manifestation of fibrillinopathy, is accompanied by measurable differences in macular microvasculature. Researchers compared optical coherence tomography angiography (OCTA) parameters between participants with and without documented lens dislocation, and descriptively reviewed archived clinical FBN1 reports. The 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, where only one eye had usable data, using the single valid eye. Five OCTA endpoints were compared using two-sided Mann–Whitney U tests, with Benjamini–Hochberg q values applied as a multiplicity sensitivity analysis. Seven archived clinical FBN1 reports from lens-dislocation-positive participants were summarized without any variant reclassification, and no genotype–OCTA association was assessed.

The cohort comprised 7 lens-dislocation-positive (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 the LD+ group, with a median of 19.38% (interquartile range 18.68–20.04) compared with 30.20% (29.20–31.85) in LD− participants, yielding an unadjusted p value of 0.036. However, the finding was not retained after multiplicity sensitivity analysis, with a q value of 0.180.

The remaining endpoints showed no significant between-group differences. Whole-image, parafoveal, and perifoveal vessel-density comparisons produced p values of 0.328, 0.272, and 0.238 respectively, each with a q value of 0.410. Foveal avascular zone area, measured in one eye per participant in a subset of 14 participants, also did not differ between groups (p = 0.606; q = 0.606).

The genetic review yielded limited but consistent documentation. Six of the seven archived clinical FBN1 reports from LD+ participants documented an FBN1 variant, while one report was negative within the scope of its assay. Because the reports were routine-care documents of heterogeneous origin, the authors summarized them descriptively rather than reclassifying any variants.

The study’s conclusions are deliberately cautious. The unadjusted foveal signal did not survive multiplicity correction, and none of the other OCTA endpoints differed significantly between groups. The authors highlight several constraints on interpretation: marked between-group differences in spherical equivalent and axial length, the small sample size, and the heterogeneous nature of the routine-care genetic reports.

Accordingly, the findings are characterized as hypothesis-generating. They do not establish OCTA as a diagnostic or prognostic test for lens dislocation in fibrillinopathy, nor do they demonstrate an individual-level genotype–OCTA association. The study instead provides a methodological template—verified dislocation status, participant-level averaging of bilateral measurements, and prespecified multiplicity sensitivity analysis—that future, larger studies could follow when testing whether macular microvascular changes accompany ectopia lentis.

Subject of Research: Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study

Article Title: Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study

Article References: Çevik, M. Ö., Simsek, M., Cevik, S. G., & Perente, I. (2026). Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study. PLOS One, 21(10), e0361193. https://doi.org/10.1371/journal.pone.0361193

Image Credits: AI Generated

DOI: 10.1371/journal.pone.0361193

Keywords: Lens, dislocation, OCTA, archived, FBN1, reports, exploratory, scientific research