| Summary: | Aim: To evaluate microvascular abnormalities of patients with Alport Syndrome (AS) using optical coherence tomography angiography (OCT-A) quantitative biomarkers. Methods: We performed a retrospective case-control evaluation of consecutive patients with AS and healthy subjects. AS diagnosis was previously established by genetic test. All participants underwent a retinal vasculature evaluation by spectral domain optical coherence tomography (SD-OCT) and OCT-A of the macula. Quantitative analysis included: whole vascular density (VD, %), foveal avascular zone area (FAZ, mm2), fractal dimension (FD) and lacunarity (LAC). Results: Ninety-four eyes were included in this study, 45 eyes from patients with AS and 49 eyes from healthy subjects. The pathogenic mutation in the COL4A5 gene on the chromosome X was found in 14 patients, and the pathogenic autosomal recessive mutation in the COL4A3 gene was found in 9 patients. The mean age of patients with AS and healthy controls was similar (45.2 vs 44.7 years, respectively; p= 0.679). Quantitative evaluation demonstrated a significant difference between AS and healthy subjects on LAC of the superficial and deep capillary plexus (p<0.001 and p<0.001, respectively) and on FD of the deep capillary plexus (p<0.001). Conclusions: The deep capillary plexus (DCP) of Alport patients has a higher vessel nonuniformity than the DCP of healthy subjects. We hypothesize that endothelial cell lesion in the setting of low resistance at the DCP circuit could lead to long term structural disorganization.
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