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

Area of Science:

• Genetics
• Ophthalmology
• Neurology
• Vascular Biology

Background:

• Retinal artery occlusion (RAO) causes severe vision loss and can signal underlying cerebrovascular disease.
• Genetic factors contributing to RAO are not well understood.
• The RNF213 p.Arg4810Lys variant is a known risk factor for moyamoya disease, a cerebrovascular disorder.

Purpose of the Study:

• To investigate the association between the RNF213 p.Arg4810Lys genetic variant and non-arteritic Retinal Artery Occlusion (NA-RAO).
• To explore the potential role of this variant in the pathogenesis of systemic vascular diseases.

Main Methods:

• Case-control study comparing NA-RAO patients (n=28) with healthy controls (n=1,202).
• Sanger sequencing was used to identify the RNF213 p.Arg4810Lys variant.
• Logistic regression analysis adjusted for age and sex was performed.

Main Results:

• The RNF213 p.Arg4810Lys variant was significantly more frequent in NA-RAO patients (10.7%) compared to controls (1.1%).
• A strong association was found between the variant and NA-RAO (P=0.001, OR=13.52).
• Patients with NA-RAO frequently had co-occurring conditions like stroke (50%), hypertension (76%), and diabetes (40%).

Conclusions:

• The RNF213 p.Arg4810Lys variant is significantly associated with NA-RAO, indicating genetic susceptibility.
• This finding suggests a potential genetic link between RAO and other systemic vascular diseases.
• Further research into RNF213 p.Arg4810Lys in vascular disease pathogenesis, especially in East Asian populations, is warranted.