Retinal arterial tortuosity in Ehlers-Danlos syndromes

To report a novel finding of retinal arterial tortuosity (RAT) associated with Ehlers-Danlos syndromes (EDS).

We queried the STAnford Research Repository (STARR) database to identify patients diagnosed with EDS. We included patients with a confirmed diagnosis of any subtype of EDS who had any form of readable retinal imaging including colour fundus photos, autofluorescence, red-free photos, red-free optical coherence tomography photos and fluorescein angiography. Patients who had no retinal imaging and those with no confirmed EDS diagnosis were excluded. Retinal images were reviewed for RAT and were graded into no, possible and definite RAT. Eyes with definite RAT were further graded into mild, moderate and severe. Eyes with definite RAT were again subclassified according to the type of involved vessels into first-order arteriolar, macular and arteriovenous.

A total of 307 patients were identified using the STARR tool and 142 patients were included. Mean age was 40.9 ± 18.1 years and 87% were female. Underlying EDS subtypes were hypermobile EDS (69.7%), classical EDS (2.8%), vascular EDS (2.1%), myopathic EDS (0.7%) and not specified (24.6%). We graded 37.3% of patients with definite RAT, 10.6% with possible RAT and 52.1% with no RAT. In patients with definite RAT, we graded 39.2% of eyes with mild RAT, 40.2% with moderate RAT and 20.6% with severe RAT. In all, 84.9% showed involvement of first-order retinal arterioles, 35.8% showed involvement of macular arterioles and 1.9% showed arteriovenous involvement.

Variable degrees of RAT are associated with EDS.