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Fumihiko Mabuchi, Yoichi Sakurada, Kenji Kashiwagi, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Koji Nishiguchi, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie; Prediction of glaucomatous visual field progression by genetic variants associated with primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1601.
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Genetic variants associated with primary open-angle glaucoma (POAG) can be classified into two types. One is a genetic variant associated with intraocular pressure (IOP) elevation (IOP-related genetic variant), while the other is a genetic variant associated with optic nerve vulnerability independent of IOP (non-IOP-related genetic variant). This study was conducted to evaluate the clinical usefulness of the additive effects of IOP-related or non-IOP-related genetic variants for predicting the patients who will have advanced/rapid glaucomatous visual field progression in POAG.
Eleven variants identified as IOP-related genetic variants and 9 variants considered to be non-IOP-related genetic variants were genotyped for 284 POAG patients. The total number of risk alleles of the 11 IOP-related or 9 non-IOP-related genetic variants was calculated as a genetic risk score (GRS). The mean deviation (MD) of Humphrey Visual Field Analyzer 30-2 was divided by age at the time of visual field test, and this parameter (MD change: dB/year) was used as an indicator of glaucomatous visual field progression. The participants were classified into advanced patients with rapid progression (MD change≤-0.26 dB) and non-advanced patients without rapid progression (MD change>-0.26 dB),and the ratio of advanced patients to non-advanced patients was compared with respect to the GRS.
There was a significant relationship (Beta=-0.14, P=0.023) between the GRS of IOP-related, but not non-IOP-related, genetic variants and the MD change. The means of MD of non-advanced and advanced patients were -8.0±4.6 and -21.7±5.5 dB respectively. The ratio (20 advanced/73 non-advanced patients) of advanced patients to non-advanced patients in patients with IOP-related GRS≤10 was almost 1.8 times smaller (P=0.035) than that (94 advanced/190 non-advanced patients) in all patients. In contrast, the ratio (40 advanced/49 non-advanced patients) in patients with IOP-related GRS≥13 was almost 1.7 times larger (P=0.042) than that in all patients.
IOP-related genetic variants (IOP elevation) rather than non-IOP-related genetic variants (optic nerve vulnerability) may play an important role for the progression of visual field defect in POAG. The above-mentioned cut-off value of IOP-related GRS may be clinically useful for predicting the risk of advanced/rapid glaucomatous visual field progression.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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