A case series from a single family of familial retinal arteriolar tortuosity with common history of sudden visual loss

Obayashi, Tomohiro; Kato, Aki; Suzuki, Harumitsu; Ohashi, Kei; Yoshida, Munenori; Shibata, Yu; Ogura, Yuichiro; Yasukawa, Tsutomu

doi:10.1016/j.ajoc.2021.101230

Cited by 1 publication

(1 citation statement)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…FRAT has been recently associated with mutations in COL4A1 gene which encodes for type 4 collagen present in basement membranes of different tissues, including retinal blood vessels [ 17 ]. FRAT can be asymptomatic or be associated with retinal haemorrhage that ensues spontaneously or following minor trauma [ 18 , 19 ]. FRAT usually presents without systemic association but some patients have presented with different systemic vascular abnormalities, including cerebral aneurysms [ 20 ] and hereditary angiopathy with nephropathy, aneurysm, and muscle cramps [ 21 ], both of which were associated with COL4A1 mutations; and familial haematuria that was associated with basement membrane abnormalities [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Retinal arterial tortuosity in Ehlers–Danlos syndromes

Ghoraba

Moshfeghi

2022

Eye

View full text Add to dashboard Cite

Purpose To report a novel finding of retinal arterial tortuosity (RAT) associated with Ehlers–Danlos syndromes (EDS). Methods 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. Results 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. Conclusions Variable degrees of RAT are associated with EDS.

show abstract