Quantitative optical coherence tomography angiography biomarkers for Alport syndrome

Abstract

PurposeTo evaluate microvascular abnormalities of patients with Alport syndrome AS using optical coherence tomography angiography (OCT‐A) quantitative biomarkers.MethodsCross‐sectional, prospective evaluation of consecutive patients with AS and healthy subjects. AS diagnosis was performed 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).ResultsNinety‐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 the pathogenic autosomal recessive mutations in the COL4A3 gene were found in 9 patients. Quantitative evaluation demonstrated a significant difference between AS and healthy subjects on LAC of the SCP and DCP (p < 0.001 and p < 0.001, respectively) and on FD in the DCP (p < 0.001).ConclusionThe DCP Alport patients have a higher vessel nonuniformity than DCP of healthy subjects. We hypothesize that endothelial cells lesion in the setting of low resistance at the DCP circuit that could lead to long‐term structural disorganization.