July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Prediction of glaucomatous visual field progression by genetic variants associated with primary open-angle glaucoma
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
Author Affiliations & Notes
  • Fumihiko Mabuchi
    Ophthalmology, University of Yamanashi, Chuo, Yamanashi, Japan
  • Yoichi Sakurada
    Ophthalmology, University of Yamanashi, Chuo, Yamanashi, Japan
  • Kenji Kashiwagi
    Ophthalmology, University of Yamanashi, Chuo, Yamanashi, Japan
  • Mitsuko Takamoto
    Ophthalmology, Saitama Red Cross Hospital, Chuo-ku, Saitama, Japan
  • Makoto Aihara
    Ophthalmology, University of Tokyo, Bunkyo-ku, Tokyo, Japan
  • Takeshi Iwata
    Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro-ku, Tokyo, Japan
  • Kazuki Hashimoto
    Ophthalmology, Tohoku University, Sendai, Miyagi, Japan
  • Kota Sato
    Ophthalmology, Tohoku University, Sendai, Miyagi, Japan
    Collaborative Program for Ophthalmic Drug Discovery, Tohoku University, Sendai, Miyagi, Japan
  • Yukihiro Shiga
    Ophthalmic Imaging and Information Analytics, Tohoku University, Sendai, Miyagi, Japan
  • Koji Nishiguchi
    Advanced Ophthalmic Medicine, Tohoku University, Sendai, Miyagi, Japan
  • Toru Nakazawa
    Ophthalmology, Tohoku University, Sendai, Miyagi, Japan
    Ophthalmic Imaging and Information Analytics, Tohoku University, Sendai, Miyagi, Japan
  • Masato Akiyama
    Ophthalmology, Kyushu University, Fukuoka, Fukuoka, Japan
  • Kazuhide Kawase
    Ophthalmology, Gifu University Hospital, Gifu, Gifu, Japan
  • Mineo Ozaki
    Ozaki Eye Hospital, Hyuga, Miyazaki, Japan
  • Makoto Araie
    Ophthalmology, Kanto Central Hospital of the Mutual Aid Association of Public School Teachers, Setagaya-ku, Tokyo, Japan
  • Footnotes
    Commercial Relationships   Fumihiko Mabuchi, None; Yoichi Sakurada, None; Kenji Kashiwagi, None; Mitsuko Takamoto, None; Makoto Aihara, None; Takeshi Iwata, None; Kazuki Hashimoto, None; Kota Sato, None; Yukihiro Shiga, None; Koji Nishiguchi, None; Toru Nakazawa, None; Masato Akiyama, None; Kazuhide Kawase, None; Mineo Ozaki, None; Makoto Araie, None
  • Footnotes
    Support  Japan Society for the Promotion of Science (JSPS) KAKENHI Grant Number 15K10861 and 18K09400
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 1601. doi:
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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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Abstract

Purpose : 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.

Methods : 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.

Results : 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.

Conclusions : 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.

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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Copyright © 2024 Association for Research in Vision and Ophthalmology.
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