Vascular Profile of Autosomal Recessive Bestrophinopathy Revealed by Projection-Resolved OCTA

Purpose: To investigate macular vascular changes in autosomal recessive bestrophinopathy (ARB) using projection-resolved optical coherence tomography angiography (PR-OCTA) and analyze their correlation with visual function and axial length (AL). Methods: This retrospective study included 12 ARB patients and 12 age- and AL-matched healthy controls. All participants underwent comprehensive ocular examinations and PR-OCTA imaging to measure parafoveal vessel density in the superficial vascular complex (SVC), inner capillary plexus (ICP), and deep capillary plexus (DCP). Statistical analyses were performed to compare vessel density and correlate these metrics with best-corrected visual acuity (BCVA) and AL. Results: Compared to controls, ARB patients exhibited significantly reduced parafoveal vessel density in the SVC (53.94 ± 3.85% vs. 57.72 ± 5.82%, P < 0.05), ICP (34.17 ± 4.03% vs. 41.54 ± 5.9%, P < 0.001), and DCP (15.13 ± 7.43% vs. 30.22 ± 7.65%, P < 0.001). Subgroup analysis revealed no significant differences in vessel density between glaucoma and non-glaucoma patients or between those with and without macular schisis. Positive correlations were found between BCVA and vessel density in the ICP (r = 0.502, P = 0.017) and DCP (r = 0.508, P = 0.016). Conclusions: PR-OCTA demonstrated significantly reduced parafoveal vessel density in ARB patients, suggesting vascular impairment associated with retinal dysfunction. These findings provide new insights into ARB pathophysiology and highlight the potential utility of OCTA in evaluating rare retinal disorders.