Genetic Polymorphisms Affecting Ranibizumab Response in High Myopia Patients

Area of Science:

• Ophthalmology
• Genetics
• Pharmacogenomics

Background:

• High myopia is a prevalent condition, increasing the risk of choroidal neovascularization (CNV).
• Ranibizumab, an anti-vascular endothelial growth factor (anti-VEGF) therapy, is used for CNV treatment.
• Genetic variations are known to affect individual responses to anti-VEGF treatments for CNV.

Purpose of the Study:

• To investigate the association between specific genetic polymorphisms and the response to ranibizumab in patients with high myopia and secondary CNV (mCNV).
• To identify genetic markers that predict treatment efficacy for mCNV.

Main Methods:

• Retrospective study analyzing genetic polymorphisms in patients with mCNV treated with ranibizumab.
• Included polymorphisms previously associated with anti-VEGF or photodynamic therapy response, and variants in the VEGFA gene.
• Assessed the correlation between specific genotypes and ranibizumab treatment outcomes.

Main Results:

• The ARMS2 (rs10490924) and CFH (rs1061170) polymorphisms were significantly associated with ranibizumab response in the high myopia CNV cohort.
• No association was found between the studied VEGFA gene polymorphisms and ranibizumab response.
• VEGFA variants may be associated with an increased risk of developing CNV in high myopia.

Conclusions:

• ARMS2 and CFH gene polymorphisms are potential predictive biomarkers for ranibizumab treatment response in patients with high myopia and CNV.
• VEGFA genetic variants do not appear to influence ranibizumab efficacy but may play a role in mCNV pathogenesis.
• Further research is warranted to elucidate the role of these genetic factors in personalized treatment strategies for mCNV.