Quantitative optical coherence tomography angiography biomarkers for Alport syndrome

Author: Ana Maria Cunha (Portugal)

Co-authors: Ana Maria Cunha, Daniela Teixeira, Diogo Cabral, Sérgio Estrela-Silva, Fernando Falcão-Reis, Ângela Carneiro

Purpose

To evaluate microvascular abnormalities of patients with AS using optical coherence tomography angiography (OCT-A) quantitative biomarkers.

Setting/Venue

Department of Ophthalmology, Centro Hospitalar Universitário São João, Porto, Portugal

Methods

Cross 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 OCTA 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 the pathogenic autosomal recessive mutations in the COL4A3 gene were found in 9 patients. The age of the patients with AS ranged from 21 to 57 years. 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).

Conlusions

The DCP Alport patients has 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.

Financial Disclosure

None