RNF213 c.14429G > A (p.Arg4810Lys) is associated with non-arteritic retinal artery occlusion.

ABSTRACT: Retinal artery occlusion (RAO) results in severe visual impairment and may indicate cerebral infarction and extracranial carotid artery stenosis at onset. RAO-related genetic factors remain understudied. We investigated the association between RAO and RNF213 p.Arg4810Lys (c.14429G > A), a genetic variant recently identified as a susceptibility factor for moyamoya disease, a risk factor for stroke. Patients diagnosed with non-arteritic (NA)-RAO at our department between May 2020 and April 2021 underwent magnetic resonance imaging and computed tomography angiography. Sanger sequencing revealed that RNF213 p.Arg4810Lys was significantly more frequent in the NA-RAO group (10.7%) than in the control group (1.1%). We conducted a logistic regression analysis adjusted for age and sex to compare th

SUBMITTER: Shimada D 

PROVIDER: S-EPMC12514059 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature