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Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
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Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma.
Fumihiko Mabuchi1, Nakako Mabuchi2, Yoichi Sakurada2
1Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Chuo, Yamanashi, Japan. mabuchif-oph@umin.ac.jp.
Scientific Reports
|December 1, 2022
Summary
Genetic variants influencing intraocular pressure (IOP) are linked to the severity of visual field loss in primary open-angle glaucoma (POAG). Optic nerve vulnerability genes are associated with focal visual field disturbances in POAG patients.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness characterized by optic neuropathy and visual field loss.
- Genetic factors are known to contribute to POAG pathogenesis, but their specific roles in visual field defects require further elucidation.
Purpose of the Study:
- To investigate the association between genetic variants predisposing to POAG and the severity and pattern of visual field loss.
- To differentiate the roles of intraocular pressure (IOP)-related and optic nerve-related genetic variants in POAG-induced visual field defects.
Main Methods:
- Genotyping of 22 predisposing genetic variants in 426 Japanese POAG patients and 246 controls.
- Calculation of genetic risk scores (GRS) for IOP-related and optic nerve-related variants.
- Evaluation of associations between GRS and visual field parameters: mean deviation (MD) for severity and pattern standard deviation (PSD) for focal disturbance.
Main Results:
- A significant association was found between the IOP-related GRS and MD (Beta = -0.51, P = 0.0012), suggesting additive effects of IOP-related variants influence overall visual field loss severity.
- The optic nerve-related GRS, but not the IOP-related GRS, was significantly associated with PSD (Beta = 0.65, P = 0.0097), indicating a role in focal visual field disturbances.
- This study provides the first evidence linking additive genetic variant effects to both diffuse and focal visual field loss in POAG.
Conclusions:
- IOP-related genetic variants contribute to the severity of visual field loss in POAG, likely through additive effects on IOP elevation.
- Optic nerve-related genetic variants are specifically associated with focal visual field defects in POAG.
- Understanding these distinct genetic contributions can advance personalized risk assessment and treatment strategies for POAG.
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