Familial retinal arteriolar tortuosity and quantification of vascular tortuosity using swept-source optical coherence tomography angiography.

Purpose: Familial retinal arteriolar tortuosity (FRAT) is a rare autosomal dominant disorder that is characterized by tortuosity of the second and higher order retinal arterioles. We implement swept-source optical coherence tomography angiography (SS-OCTA) to quantify vessel tortuosity in patients with FRAT. We hypothesize that patients with FRAT will have higher retinal arteriole tortuosity when compared to controls.

Methods: Patients were scanned with a SS-OCTA device (Plex Elite 9000, Carl Zeiss Meditec, Dublin, CA). Images of a 12 × 12 mm area centered on the fovea were processed, and retinal vessels >23.5 μm in diameter were identified. An automatic tortuosity measurement program written in MATLAB was used to assess vessel tortuosity. Branch points in the vessels were detected and used to separate the vasculature into individual segments. The tortuosity was measured by calculating the arc-chord ratio of each vessel segment, where a minimum value of 1 indicated a straight vessel and higher values corresponded to increasing tortuosity.

Results: Two patients (4 eyes) with a known history of FRAT and six controls (12 eyes) were enrolled in the study. The mean tortuosity of all vessel segments (MTVS) in scans of FRAT eyes was on average 1.1244 [range: 1.1044-1.1438] while for control eyes it was 1.0818 [range: 1.0746-1.0872]. Average MTVS of FRAT eyes was significantly higher compared to control eyes (p = 0.03).

Conclusions And Importance: Our results are consistent with the hypothesis that patients with FRAT have higher objective measurements of tortuosity compared to controls. Broader applications of this method may be of benefit in other retinal diseases with changes in retinal vessel configuration.