2022/05/19 更新

写真a

コミナミ タロウ
小南 太郎
KOMINAMI Taro
所属
医学部附属病院 眼科 助教
大学院担当
大学院医学系研究科
職名
助教

学位 1

  1. 博士(医学) ( 2016年9月   名古屋大学 ) 

研究分野 2

  1. 情報通信 / 知能情報学

  2. ライフサイエンス / 眼科学

現在の研究課題とSDGs 1

  1. 機械学習を用いた網膜色素変性の進行評価

経歴 13

  1. 名古屋大学医学部附属病院   眼科   助教

    2021年10月 - 現在

  2. 名古屋大学医学部附属病院   眼科   病院助教

    2021年9月

  3. 小牧市民病院   眼科   医長

    2020年12月 - 2021年8月

  4. 国立研究開発法人   ゲノム・データ基盤事業部 医療技術研究開発課   主幹

    2020年4月 - 2020年11月

  5. 名古屋大学医学部附属病院

    2018年4月 - 現在

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    国名:日本国

  6. 名古屋大学   医学部附属病院 眼科   病院助教

    2018年4月 - 2020年3月

  7. 名古屋記念病院

    2017年7月 - 2018年3月

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    国名:日本国

  8. 名古屋記念病院   眼科   医長

    2017年7月 - 2018年3月

  9. 名古屋大学医学部附属病院

    2015年4月 - 2017年6月

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    国名:日本国

  10. 名古屋大学

    2015年4月 - 2017年6月

  11. 安城更生病院

    2013年4月 - 2015年3月

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    国名:日本国

  12. 名古屋大学医学部附属病院

    2012年4月 - 2013年3月

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    国名:日本国

  13. 小牧市民病院

    2010年4月 - 2012年3月

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    国名:日本国

▼全件表示

学歴 2

  1. 名古屋大学   医学系研究科

    2013年4月 - 2016年9月

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    国名: 日本国

  2. 名古屋大学   医学部

    2004年4月 - 2010年3月

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    国名: 日本国

所属学協会 4

  1. 日本臨床視覚電気生理学会

  2. 日本眼科学会

  3. 日本臨床視覚電気生理学会

  4. 日本眼科学会

受賞 1

  1. 日本眼科学会令和2年度学術奨励賞

    2021年4月   日本眼科学会   高齢のロドプシンP347L遺伝子改変ウサギにおける視機能・構造変化の解析

    小南 太郎

 

論文 38

  1. Regional and sex differences in retinal detachment surgery: Japan-retinal detachment registry report

    Funatsu R., Terasaki H., Sakamoto T., Yamamoto S., Baba T., Sato E., Kitahashi M., Tatsumi T., Miura G., Niizawa T., Sakamoto T., Yamakiri K., Yamashita T., Otsuka H., Sameshima S., Yoshinaga N., Sonoda S., Hirakata A., Koto T., Inoue M., Hirota K., Itoh Y., Orihara T., Emoto Y., Sano M., Takahashi H., Tokizawa R., Yamashita H., Nishitsuka K., Kaneko Y., Nishi K., Yoshida A., Ono S., Hirokawa H., Sogawa K., Omae T., Ishibazawa A., Kishi S., Akiyama H., Matsumoto H., Mukai R., Morimoto M., Nakazawa M., Suzuki Y., Kudo T., Adachi K., Ishida S., Noda K., Kase S., Mori S., Ando R., Saito M., Suzuki T., Takahashi K., Nagai Y., Nakauchi T., Yamada H., Kusaka S., Tsujioka D., Tsujikawa A., Suzuma K., Ishibashi T., Sonoda K.H., Ikeda Y., Kohno R., Ishikawa K., Kondo M., Kozawa M., Kitaoka T., Tsuiki E., Ogura Y., Yoshida M., Morita H., Kato A., Hirano Y., Sugitani K., Terasaki H., Iwase T., Ito Y., Ueno S., Kaneko H., Nonobe N., Kominami T., Azuma N., Yokoi T., Shimada H., Nakashizuka H., Hattori T., Shinojima A., Kitagawa Y., Shiraga F., Morizane Y., Kimura S., Ikeda T., Kida T., Sato T., Fukumoto M., Emi K., Nakashima H., Ohji M.

    Scientific Reports   11 巻 ( 1 )   2021年12月

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    記述言語:日本語   出版者・発行元:Scientific Reports  

    It is known that social factors affect the choice of treatments, and special attention has been paid to sex differences. The purpose of this study was to determine whether regional and sex differences exist in the treatment of rhegmatogenous retinal detachment (RD). We used Japan-RD Registry database of 2523 patients aged ≥ 40 years between February 2016 and March 2017 in 5 Japanese regions. Regional differences of patients’ perioperative factors were analyzed. The factors affecting the proportion of patients who underwent surgery within one week of the onset, defined as early-surgery, were examined by logistic regression. We observed regional differences in perioperative factors, especially in the use of phacovitrectomy, general anesthesia, and air-tamponade, which was higher in certain regions. (Fisher’s exact test, all P = 0.012) The proportion of early-surgery was significantly higher among men in Kyushu region (Odds ratio (OR) 1.83; 95% confidence interval (CI) 1.08–3.12; P = 0.02), and it was also significantly higher after adjusting for covariates (OR 1.89; 95% CI 1.06–3.42; P = 0.02). Regional and sex differences exist in the treatment of RD in Japan. Although there was no significant differences in the anatomical outcomes, women in certain regions of Japan are less likely to receive early surgical intervention for RD.

    DOI: 10.1038/s41598-021-00186-w

    Scopus

  2. INTRAOPERATIVE AND POSTOPERATIVE MONITORING OF AUTOLOGOUS NEUROSENSORY RETINAL FLAP TRANSPLANTATION FOR A REFRACTORY MACULAR HOLE ASSOCIATED WITH HIGH MYOPIA

    Takeuchi Jun, Kataoka Keiko, Shimizu Hideyuki, Tomita Ryo, Kominami Taro, Ushida Hiroaki, Kaneko Hiroki, Ito Yasuki, Terasaki Hiroko

    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES   41 巻 ( 5 ) 頁: 921 - 930   2021年5月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Retina (Philadelphia, Pa.)  

    PURPOSE: To describe the intraoperative and postoperative morphological and functional outcomes after autologous neurosensory retinal flap transplantation (ART) for a high myopia-related refractory macular hole (MH). METHODS: This prospective interventional study enrolled five eyes of five patients (age range 54-84 years) with highly myopic refractory MHs who underwent ART. All cases were evaluated with intraoperative optical coherence tomography and postoperative optical coherence tomography, optical coherence tomography angiography, and microperimetry for at least 6 months postoperatively. RESULTS: Intraoperatively, the MH was covered by an ART flap with a persistent small subretinal space that was filled with the ART flap after 4 days to 6 days. Optical coherence tomography discriminated the original from the transplanted retina. The mean basal diameter of the original MH decreased from 1,504 ± 684 µm preoperatively to 1,111 ± 356 µm postoperatively. The best-corrected visual acuity improved in two cases, was stable in two cases, and deteriorated in one case. Microperimetry demonstrated no obvious postoperative changes in the fixation points and the absolute scotoma corresponding to the base of MHs with chorioretinal atrophy. In two eyes, choroidal neovascularization developed beneath the transplanted retinas. CONCLUSION: Transplanted tissue was in a fixed position by 1 week postoperatively with a decreased diameter of the original MH. Postoperative fixation points were on the original retina at the MH edge. Because choroidal neovascularization may develop, detailed monitoring is required.

    DOI: 10.1097/IAE.0000000000003000

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  3. Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants 査読有り

    Ueno Shinji, Koyanagi Yoshito, Kominami Taro, Ito Yasuki, Kawano Kenichi, Nishiguchi Koji M., Rivolta Carlo, Nakazawa Toru, Sonoda Koh-Hei, Terasaki Hiroko

    JAPANESE JOURNAL OF OPHTHALMOLOGY   64 巻 ( 5 ) 頁: 485 - 496   2020年9月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Japanese Journal of Ophthalmology  

    Purpose: To report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) associated with a variant of the RP1 gene (c.4052_4053ins328/p.Tyr1352Alafs*9; m1), a high frequency founder variant in Japanese RP patients. Study design: Retrospective case series. Methods: Nine patients from 5 unrelated Japanese families were studied. Five patients had the m1 variant homozygously, and 4 patients had the m1 variant compound heterozygously with another frameshift variant (c.4196delG/p.Cys1399Leufs*5). Ophthalmic examinations including adaptive optics (AO) fundus imaging were performed periodically. Results: The fundus photographs, fundus autofluorescence (FAF) images, and optical coherence tomographic (OCT) images indicated severe retinal degeneration in all the patients involving the macula even at a young age (20 s). The areas of surviving photoreceptors in the central macula were seen as hyper-autofluorescent regions in the FAF images and preserved outer retinal structure in the OCT images; they were identifiable in the AO fundus images in 8 eyes. The borders of the surviving photoreceptor areas were surrounded by hyporeflective clumps, presumably containing melanin, and the size of these areas decreased progressively during the 4-year follow-up period. The disappearance of the surviving photoreceptor areas was associated with complete blindness. Conclusion: Patients with RP associated with the m1 variant have a progressive and severe retinal degeneration that begins at an early age. Monitoring the surviving photoreceptor areas by AO fundus imaging can provide a more precise pathological record of retinal degeneration.

    DOI: 10.1007/s10384-020-00752-1

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  4. RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association 国際誌

    Fujinami Kaoru, Liu Xiao, Ueno Shinji, Mizota Atsushi, Shinoda Kei, Kuniyoshi Kazuki, Fujinami-Yokokawa Yu, Yang Lizhu, Arno Gavin, Pontikos Nikolas, Kameya Shuhei, Kominami Taro, Terasaki Hiroko, Sakuramoto Hiroyuki, Nakamura Natsuko, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Yoshiake Kazutoshi, Iwata Takeshi, Tsunoda Kazushige

    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS   184 巻 ( 3 ) 頁: 675 - 693   2020年9月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:American Journal of Medical Genetics, Part C: Seminars in Medical Genetics  

    The retinitis pigmentosa 2 (RP2) gene is one of the causative genes for X-linked inherited retinal disorder. We characterized the clinical/genetic features of four patients with RP2-associated retinal disorder (RP2-RD) from four Japanese families in a nationwide cohort. A systematic review of RP2-RD in the Japanese population was also performed. All four patients were clinically diagnosed with retinitis pigmentosa (RP). The mean age at examination was 36.5 (10–47) years, and the mean visual acuity in the right/left eye was 1.40 (0.52–2.0)/1.10 (0.52–1.7) in the logarithm of the minimum angle of resolution unit, respectively. Three patients showed extensive retinal atrophy with macular involvement, and one had central retinal atrophy. Four RP2 variants were identified, including two novel missense (p.Ser6Phe, p.Leu189Pro) and two previously reported truncating variants (p.Arg120Ter, p.Glu269CysfsTer3). The phenotypes of two patients with truncating variants were more severe than the phenotypes of two patients with missense variants. A systematic review revealed additional 11 variants, including three missense and eight deleterious (null) variants, and a statistically significant association between phenotype severity and genotype severity was revealed. The clinical and genetic spectrum of RP2-RD was illustrated in the Japanese population, identifying the characteristic features of a severe form of RP with early macular involvement.

    DOI: 10.1002/ajmg.c.31830

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  5. Longitudinal Changes of Macular Curvature in Patients with Retinitis Pigmentosa

    Meinert Monika, Ueno Shinji, Komori Shiori, Koyanagi Yoshito, Sayo Akira, Andreasson Sten, Kominami Taro, Ito Yasuki, Terasaki Hiroko

    TRANSLATIONAL VISION SCIENCE & TECHNOLOGY   9 巻 ( 10 ) 頁: 11 - 8   2020年9月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Translational Vision Science and Technology  

    Purpose: To investigate the longitudinal changes of the macular curvature in eyes with retinitis pigmentosa (RP) and to determine the factors associated with the changes. Methods: We reviewed the medical charts of 107 RP patients, for whom the axial length of their right eyes ranged from 21.5 to 26.0 mm and who had had been followed by spectral-domain optical coherence tomography (OCT). The OCT images at the initial and the most recent examinations were compared. The mean curvature of Bruch’s membrane within 6 mm of the central macula obtained from the OCT images was evalu-ated as the mean macular curvature index (MMCI). Changes in the MMCI and their relationships with other clinical factors, including the ellipsoid zone (EZ) width, were assessed. Results: The MMCI decreased significantly in the vertical OCT images, from –15.47 × 10−5 μm−1 to –16.36 × 10−5 μm−1 (P = 0.008) during the mean observation period of 3.4 ± 1.4 years (mean ± SD). This indicated that the macular shape became more concave. The change to a steeper shape was more prominent in eyes with less photoreceptor degeneration and for which the EZ width was preserved at >2000 μm. In three eyes, the MMCI increased markedly by >5 × 10−5 μm−1, and this was accompanied by absorption of the macular edema. Conclusions: The macular curvature in RP eyes becomes more concave in eyes with preserved EZ width. Translational Relevance: Longitudinal changes of the macular curvature in RP should be considered in future therapies, such as the implantation of the retinal prosthesis.

    DOI: 10.1167/tvst.9.10.11

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  6. Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients

    Koyanagi Yoshito, Ueno Shinji, Ito Yasuki, Kominami Taro, Komori Shiori, Akiyama Masato, Murakami Yusuke, Ikeda Yasuhiro, Sonoda Koh-Hei, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   61 巻 ( 10 ) 頁: 6   2020年8月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Investigative Ophthalmology and Visual Science  

    PURPOSE. To determine the relationship between the macular curvature and the causative genes of retinitis pigmentosa (RP). METHODS. We examined the medical records of the right eyes of 65 cases with RP (31 men and 34 women; average age, 47.6 years). There were 31 cases with the EYS variants, 11 cases with the USH2A variants, six cases with the RPGR variants, 13 cases with the RP1 variants, and four cases with the RP1L1 variants. The mean curvature of Bruch’s membrane was calculated within 6 mm of the fovea as the mean macular curvature index (MMCI, 1/μm). We used multiple linear regression analysis to determine the independence of the causative genes contributing to the MMCIs after adjustments for age, sex, axial length, and width of the ellipsoid zone. RESULTS. The median MMCI was -31.2 × 10-5/μm for the RPGR eyes, -16.5 × 10-5/μm for the RP1L1 eyes, -13.0 × 10-5/μm for the RP1 eyes, -9.8 × 10-5/μm for the EYS eyes, and -9.0 × 10-5/μm for the USH2A eyes. Compared with the EYS gene as the reference gene, the RPGR gene was significantly related to the MMCI values after adjusting for the other parameters (P = 5.30 × 10-6). In contrast, the effects of the other genes, USH2A, RP1, and RP1L1, were not significantly different from that of the EYS gene (P = 0.26, P = 0.49, and P = 0.92, respectively). CONCLUSIONS. The RPGR gene had a stronger effect on the steep macular curvature than the other ciliopathy-related genes.

    DOI: 10.1167/iovs.61.10.6

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  7. Changes in intraocular pressure and aqueous flare in eyes with multiple evanescent white dot syndrome

    Ito Yasuki, Ito Mari, Ueno Shinji, Kataoka Keiko, Takeuchi Jun, Kominami Taro, Takayama Kei, Terasaki Hiroko

    JAPANESE JOURNAL OF OPHTHALMOLOGY   64 巻 ( 4 ) 頁: 378 - 384   2020年7月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Japanese Journal of Ophthalmology  

    Purpose: To study the changes in intraocular pressure (IOP) and aqueous flare in eyes with multiple evanescent white dot syndrome (MEWDS) during the disease course. Study design: Retrospective observational study. Methods: Twenty-one patients with unilateral MEWDS were retrospectively evaluated. IOP values were compared between the affected and fellow eyes 2 weeks, 1 month, and 3 months following disease onset in 17 patients, and within 7 days from disease onset in 11 patients. Aqueous flare values measured using a laser flare-cell meter in ten eyes between 1 weeks and 1 month from disease onset were compared between the affected and fellow eyes. Results: IOP values were significantly lower in the affected eyes than in the fellow eyes at both 2 weeks (P=0.002) and 1 month from disease onset (P=0.02). However, IOP values of affected eyes did not show significant differences from the fellow eyes within 7 days ((P=0.11) and 3 months of onset (P=0.30). Aqueous flare values were significantly increased in the affected eyes compared to those in the fellow eyes (P=0.010) and significantly correlated with IOP values (r=−0.67, P=0.035). Conclusion: IOP values mildly decreased in association with aqueous flare values in the acute phase in eyes with MEWDS.

    DOI: 10.1007/s10384-020-00738-z

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  8. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association 査読有り

    Fujinami-Yokokawa Yu, Fujinami Kaoru, Kuniyoshi Kazuki, Hayashi Takaaki, Ueno Shinji, Mizota Atsushi, Shinoda Kei, Arno Gavin, Pontikos Nikolas, Yang Lizhu, Liu Xiao, Sakuramoto Hiroyuki, Katagiri Satoshi, Mizobuchi Kei, Kominami Taro, Terasaki Hiroko, Nakamura Natsuko, Kameya Shuhei, Yoshitake Kazutoshi, Miyake Yozo, Kurihara Toshihide, Tsubota Kazuo, Miyata Hiroaki, Iwata Takeshi, Tsunoda Kazushige

    SCIENTIFIC REPORTS   10 巻 ( 1 ) 頁: 9531   2020年6月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Scientific Reports  

    Inherited retinal disorder (IRD) is a leading cause of blindness, and CRX is one of a number of genes reported to harbour autosomal dominant (AD) and recessive (AR) causative variants. Eighteen patients from 13 families with CRX-associated retinal disorder (CRX-RD) were identified from 730 Japanese families with IRD. Ophthalmological examinations and phenotype subgroup classification were performed. The median age of onset/latest examination was 45.0/62.5 years (range, 15–77/25–94). The median visual acuity in the right/left eye was 0.52/0.40 (range, −0.08–2.00/−0.18–1.70) logarithm of the minimum angle of resolution (LogMAR) units. There was one family with macular dystrophy, nine with cone-rod dystrophy (CORD), and three with retinitis pigmentosa. In silico analysis of CRX variants was conducted for genotype subgroup classification based on inheritance and the presence of truncating variants. Eight pathogenic CRX variants were identified, including three novel heterozygous variants (p.R43H, p.P145Lfs*42, and p.P197Afs*22). A trend of a genotype-phenotype association was revealed between the phenotype and genotype subgroups. A considerably high proportion of CRX-RD in ADCORD was determined in the Japanese cohort (39.1%), often showing the mild phenotype (CORD) with late-onset disease (sixth decade). Frequently found heterozygous missense variants located within the homeodomain underlie this mild phenotype. This large cohort study delineates the disease spectrum of CRX-RD in the Japanese population.

    DOI: 10.1038/s41598-020-65737-z

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    その他リンク: http://www.nature.com/articles/s41598-020-65737-z

  9. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder 査読有り 国際誌

    Liu Xiao, Fujinami Kaoru, Kuniyoshi Kazuki, Kondo Mineo, Ueno Shinji, Hayashi Takaaki, Mochizuki Kiyofumi, Kameya Shuhei, Yang Lizhu, Fujinami-Yokokawa Yu, Arno Gavin, Pontikos Nikolas, Sakuramoto Hiroyuki, Kominami Taro, Terasaki Hiroko, Katagiri Satoshi, Mizobuchi Kei, Nakamura Natsuko, Yoshitake Kazutoshi, Miyake Yozo, Li Shiying, Kurihara Toshihide, Tsubota Kazuo, Iwata Takeshi, Tsunoda Kazushige

    TRANSLATIONAL VISION SCIENCE & TECHNOLOGY   9 巻 ( 6 ) 頁: 2 - 2   2020年5月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Translational Vision Science and Technology  

    Purpose: To determine the clinical and genetic characteristics of patients with GUCY2D-associated retinal disorder (GUCY2D-RD). Methods: Fifteen patients from 12 families with inherited retinal disorder (IRD) and harboring GUCY2D variants were ascertained from 730 Japanese families with IRD. Comprehensive ophthalmological examinations, including visual acuity (VA) measure-ment, retinal imaging, and electrophysiological assessment were performed to classify patients into three phenotype subgroups; macular dystrophy (MD), cone-rod dystrophy (CORD), and Leber congenital amaurosis (LCA). In silico analysis was performed for the detected variants, and the molecularly confirmed inheritance pattern was determined (autosomal dominant/recessive [AD/AR]). Results: The median age of onset/examination was 22.0/38.0 years (ranges, 0-55 and 1-73) with a median VA of 0.80/0.70 LogMAR units (ranges, 0.00-1.52 and 0.10-1.52) in the right/left eye, respectively. Macular atrophy was identified in seven patients (46.7%), and two had diffuse fundus disturbance (13.3%), and six had an essentially normal fundus (40.0%). There were 11 patients with generalized cone-rod dysfunction (78.6%), two with entire functional loss (14.3%), and one with confined macular dysfunction (7.1%). There were nine families with ADCORD, one with ARCORD, one with ADMD, and one with ARLCA. Ten GUCY2D variants were identified, including four novel variants (p.Val56GlyfsTer262, p.Met246Ile, p.Arg761Trp, p.Glu874Lys). Conclusions: This large cohort study delineates the disease spectrum of GUCY2D-RD. Diverse clinical presentations with various severities of ADCORD and the early-onset severe phenotype of ARLCA are illustrated. A relatively lower prevalence of GUCY2D-RD for ADCORD and ARLCA in the Japanese population was revealed. Translational Relevance: The obtained data help to monitor and counsel patients, especially in East Asia, as well as to design future therapeutic approaches.

    DOI: 10.1167/tvst.9.6.2

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  10. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency 国際誌

    Yang Lizhu, Fujinami Kaoru, Ueno Shinji, Kuniyoshi Kazuki, Hayashi Takaaki, Kondo Mineo, Mizota Atsushi, Naoi Nobuhisa, Shinoda Kei, Kameya Shuhei, Fujinami-Yokokawa Yu, Liu Xiao, Arno Gavin, Pontikos Nikolas, Kominami Taro, Terasaki Hiroko, Sakuramoto Hiroyuki, Katagiri Satoshi, Mizobuchi Kei, Nakamura Natsuko, Mawatari Go, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Yoshitake Kazutoshi, Iwata Takeshi, Tsunoda Kazushige

    SCIENTIFIC REPORTS   10 巻 ( 1 ) 頁: 5497 - 5497   2020年3月

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    記述言語:日本語   出版者・発行元:Scientific Reports  

    Biallelic variants in the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), with a high prevalence in the Asian population. The purpose of this study was to identify pathogenic EYS variants, to determine the clinical/genetic spectrum of EYS-associated retinal disease (EYS-RD), and to discover disease-associated variants with relatively high allele frequency (1%-10%) in a nationwide Japanese cohort. Sixty-six affected subjects from 61 families with biallelic or multiple pathogenic/disease-associated EYS variants were ascertained by whole-exome sequencing. Three phenotype groups were identified in EYS-RD: retinitis pigmentosa (RP; 85.94%), cone-rod dystrophy (CORD; 10.94%), and Leber congenital amaurosis (LCA; 3.12%). Twenty-six pathogenic/disease-associated EYS variants were identified, including seven novel variants. The two most prevalent variants, p.(Gly843Glu) and p.(Thr2465Ser) were found in 26 and twelve families (42.6%, 19.7%), respectively, for which the allele frequency (AF) in the Japanese population was 2.2% and 3.0%, respectively. These results expand the phenotypic and genotypic spectrum of EYS-RD, accounting for a high proportion of EYS-RD both in autosomal recessive RP (23.4%) and autosomal recessive CORD (9.9%) in the Japanese population. The presence of EYS variants with relatively high AF highlights the importance of considering the pathogenicity of non-rare variants in relatively prevalent Mendelian disorders.

    DOI: 10.1038/s41598-020-62119-3

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  11. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY 国際誌

    Nakanishi Ayami, Ueno Shinji, Hayashi Takaaki, Katagiri Satoshi, Ito Yasuki, Kominami Taro, Fujinami Kaoru, Tsunoda Kazushige, Iwata Takeshi, Terasaki Hiroko

    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES   40 巻 ( 1 ) 頁: 181 - 186   2020年1月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Retina  

    Purpose:To assess the morphological changes of cone photoreceptors in eyes with autosomal recessive bestrophinopathy.Methods:Both eyes of five patients with autosomal recessive bestrophinopathyunderwent spectral domain optical coherence tomography and adaptive optics fundus imaging. The cone photoreceptor densities were measured at intervals of 100 m between 500 m nasal and temporal eccentricities from the foveal center.Results:The median age of the patients was 30 years (range, 23-45 years), and the best-corrected visual acuity ranged from 20/20 to 20/80. Adaptive optics fundus images showed reduced cone photoreceptor densities corresponding to the damages of the photoreceptor layer in the spectral domain optical coherence tomography images in four patients with relatively good best-corrected visual acuity. The cone photoreceptor densities at the center of the fovea were less than one-third of the normal cone densities (range 11,600-30,400 cells/mm2). Cone photoreceptor mosaics were visible over the lesions with serous retinal detachment and retinal edema, although they were partially hyporeflective.Conclusion:There is a significant cone photoreceptor loss in the macular region of patients with autosomal recessive bestrophinopathy, although they had relatively good visual acuity. Monitoring cone photoreceptors by adaptive optics fundus imaging should provide accurate assessments of the disease status and indications for future therapeutic interventions.

    DOI: 10.1097/IAE.0000000000002363

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  12. Japan-Retinal Detachment Registry Report I: preoperative findings in eyes with primary retinal detachment

    Sakamoto Taiji, Kawano Sumihiro, Kawasaki Ryo, Hirakata Akito, Yamashita Hidetoshi, Yamamoto Shuichi, Ishibashi Tatsuro, Yamamoto Shuichi, Baba Takayuki, Sato Eiju, Kitahashi Masayasu, Tatsumi Tomoaki, Miura Gen, Niizawa Tomohiro, Sakamoto Taiji, Yamakiri Keita, Yamashita Toshifumi, Otsuka Hiroki, Sameshima Seiji, Yoshinaga Narimasa, Sonoda Shozo, Hirakata Akito, Koto Takashi, Inoue Makoto, Hirota Kazunari, Itoh Yuji, Orihara Tadashi, Emoto Yoshinobu, Sano Masahiko, Takahashi Hiroyuki, Tokizawa Ryo, Yamashita Hidetoshi, Nishitsuka Koichi, Kaneko Yutaka, Nishi Katsuhiro, Yoshida Akitoshi, Ono Shinji, Hirokawa Hiroyuki, Sogawa Kenji, Omae Tsuneaki, Ishibazawa Akihiro, Kishi Shoji, Akiyama Hideo, Matsumoto Hidetaka, Mukai Ryo, Morimoto Masahiro, Nakazawa Mitsuru, Suzuki Yukihiko, Kudo Takashi, Adachi Kobu, Ishida Susumu, Noda Kousuke, Kase Satoru, Mori Syouhei, Ando Ryo, Saito Michiyuki, Suzuki Tomohiro, Takahashi Kanji, Nagai Yoshimi, Nakauchi Tadashi, Yamada Haruiko, Kusaka Shuji, Tsujioka Daishi, Tsujikawa Akitaka, Suzuma Kiyoshi, Ishibashi Tatsuro, Sonoda Koh-Hei, Ikeda Yasuhiro, Kohno Riichiro, Ishikawa Keijiro, Kondo Mineo, Kozawa Maki, Kitaoka Takashi, Tsuiki Eiko, Ogura Yuichiro, Yoshida Munenori, Morita Hiroshi, Kato Aki, Hirano Yoshio, Sugitani Kazuhiko, Terasaki Hiroko, Iwase Takeshi, Ito Yasuki, Ueno Shinji, Kaneko Hiroki, Nonobe Norie, Kominami Taro, Azuma Noriyuki, Yokoi Tadashi, Shimada Hiroyuki, Nakashizuka Hiroyuki, Hattori Takayuki, Shinojima Ari, Kutagawa Yorihisa, Shiraga Fumio, Morizane Yuki, Kimura Shuhei, Ikeda Tsunehiko, Kida Teruyo, Sato Takaki, Fukumoto Masanori, Emi Kazuyuki, Nakashima Hiroshi, Ohji Masahito, Kakinoki Masashi, Sawada Osamu, Takeuchi Shinobu, Tanaka Sumiyoshi, Iida Tomohiro, Koizumi Hideki, Maruko Ichiro, Hasegawa Taiji, Kogure Akiko, Iijima Hiroyuki, Oshiro Tomohiro, Tateno Yasushi, Kikushima Wataru, Sugiyama Atsushi, Yoneyama Seigo, Kadonosono Kazuaki, Sato Shimpei, Yamane Shin

    JAPANESE JOURNAL OF OPHTHALMOLOGY   64 巻 ( 1 ) 頁: 1 - 12   2020年1月

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    記述言語:日本語  

    DOI: 10.1007/s10384-019-00702-6

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  13. CLINICAL COURSE OF PARANEOPLASTIC RETINOPATHY WITH ANTI-TRPM1 AUTOANTIBODY IN JAPANESE COHORT 国際誌

    Ueno Shinji, Inooka Daiki, Nakanishi Ayami, Okado Satoshi, Yasuda Shunsuke, Kominami Taro, Sayo Akira, Morimoto Takeshi, Kondo Mineo, Katagiri Satoshi, Hayashi Takaaki, Terasaki Hiroko

    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES   39 巻 ( 12 ) 頁: 2410 - 2418   2019年12月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Retina  

    Purpose: To report the clinical course of eyes with paraneoplastic retinopathy caused by an autoantibody against transient receptor potential cation channel, subfamily M, member 1 (TRPM1). Methods: Ten paraneoplastic retinopathy patients with retinal ON-bipolar cell dysfunction, including six melanoma-associated retinopathy, from eight institutions in Japan were evaluated for the presence of an anti-TRPM1 antibody. The results of ophthalmic examinations and the presence of anti-TRPM1 antibody were analyzed. Results: Five patients were positive for the anti-TRPM1 antibody. These patients had similar clinical findings in both eyes at the time of diagnosis; relatively preserved bestcorrected visual acuity, absence of fundus and optical coherence tomography abnormalities, and specific abnormalities of the electroretinography (ERG); and negative-type ERGs with bright stimulus flashes. One patient whose retinal ON-bipolar cells remained dysfunctional for the entire testing period, although the anti-TRPM1 antibody had disappeared. On the other hand, the ERGs recovered in 2 cases within 2 years after the onset. One case progressed to additional impairment of the photoreceptors with deterioration of ERGs. One case died and the clinical course was unavailable. Conclusion: Paraneoplastic retinopathy patients with retinal ON-bipolar cell dysfunction possess autoantibodies against TRPM1 at the onset of the disease process; however, the clinical course of these eyes can be different.

    DOI: 10.1097/IAE.0000000000002329

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  14. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance 査読有り 国際誌

    Kameya Shuhei, Fujinami Kaoru, Ueno Shinji, Hayashi Takaaki, Kuniyoshi Kazuki, Ideta Ryuichi, Kikuchi Sachiko, Kubota Daiki, Yoshitake Kazutoshi, Katagiri Satoshi, Sakuramoto Hiroyuki, Kominami Taro, Terasaki Hiroko, Yang Lizhu, Fujinami-Yokokawa Yu, Liu Xiao, Arno Gavin, Pontikos Nikolas, Miyake Yozo, Iwata Takeshi, Tsunoda Kazushige, Mizota Atsushi, Shinoda Kei, Nakamura Natsuko, Mizobuchi Kei, Nishimura Toshihide, Hayashizaki Yoshihide, Kondo Mineo, Shimozawa Nobuhiro, Horiguchi Masayuki, Yamamoto Shuichi, Kuze Manami, Naoi Nobuhisa, Machida Shigeki, Shimada Yoshiaki, Nakamura Makoto, Fujikado Takashi, Yoshihiro Hotta, Takahashi Masayo, Mochizuki Kiyofumi, Murakami Akira, Kondo Hiroyuki, Ishida Susumu, Nakazawa Mitsuru, Hatase Tetsuhisa, Matsunaga Tatsuo, Maeda Akiko, Noda Kosuke, Tanikawa Atsuhiro, Yamamoto Syuji, Yamamoto Hiroyuki, Araie Makoto, Aihara Makoto, Nakazawa Toru, Sekiryu Tetsuju, Kashiwagi Kenji, Kosaki Kenjiro, Piero Carninci, Fukuchi Takeo, Hayashi Atsushi, Hosono Katsuhiro, Mori Keisuke, Tanaka Kouji, Furuya Kouiti, Suzuki Keiichirou, Kohata Ryo, Yanagi Yasuo, Minegishi Yuriko, Iejima Daisuke, Suga Akiko, Rossmiller Brian P., Pan Yang, Oshima Tomoko, Nakayama Mao, Yamamoto Megumi, Minematsu Naoko, Mori Daisuke, Kijima Yusuke, Mawatari Go, Kurata Kentaro, Yamada Norihiro, Itoh Masayoshi, Kawaji Hideya, Murakawa Yasuhiro

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   60 巻 ( 10 ) 頁: 3432 - 3446   2019年8月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Investigative Ophthalmology and Visual Science  

    PURPOSE. Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a cohort of the Japan Eye Genetics Consortium (JEGC). METHODS. Whole-exome sequencing with targeted analyses identified homozygous or compound heterozygous mutations of the POC1B gene in 7 of 548 families in the JEGC database. Ophthalmologic examinations including the best-corrected visual acuity, perimetry, fundus photography, fundus autofluorescence imaging, optical coherence tomography, and full-field and multifocal electroretinography (ERGs) were performed. RESULTS. There were four men and four women whose median age at the onset of symptoms was 15.6 years (range, 6–23 years) and that at the time of examination was 40.3 years (range, 22–67 years). The best-corrected visual acuity ranged from -0.08 to 1.52 logMAR units. The funduscopic appearance was normal in all the cases except in one case with faint mottling in the fovea. Optical coherence tomography revealed an absence of the interdigitation zone and blurred ellipsoid zone in the posterior pole, but the foveal structures were preserved in three cases. The full-field photopic ERGs were reduced or extinguished with normal scotopic responses. The central responses of the multifocal ERGs were preserved in two cases. The diagnosis was either generalized cone dystrophy in five cases or cone dystrophy with foveal sparing in three cases. CONCLUSIONS. Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort.

    DOI: 10.1167/iovs.19-26650

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  15. Course of loss of photoreceptor function and progressive Muller cell gliosis in rhodopsin P347L transgenic rabbits

    Ueno Shinji, Kominami Taro, Okado Satoshi, Inooka Daiki, Kondo Mineo, Terasaki Hiroko

    EXPERIMENTAL EYE RESEARCH   184 巻   頁: 192 - 200   2019年7月

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    記述言語:日本語   出版者・発行元:Experimental Eye Research  

    Long living animal models of retinitis pigmentosa (RP) can provide important information on the retinal changes that occur at the late stages of photoreceptor degeneration. The rhodopsin Pro347Leu transgenic rabbit (P347L Tg) is a model of RP, and it has been used to analyze the functional and morphological changes in the retina following the degeneration of the photoreceptors. They have also been used to test newly-developed therapies to treat eyes with photoreceptor degeneration. However, assessments of the retinal changes in P347L Tg rabbits older than 1-year have not been reported even though the data are important for research on developing new therapies to restore vision at the end stages of RP. The purpose of this study was to determine the time course of the loss of photoreceptor function and the changes in the morphology of the retina of P347L Tg rabbits. The experiments were performed on 26 older P347L Tg rabbits. The results showed that the amplitudes of the ERGs of the P347L Tg rabbits gradually decreased and reached <10 μV between 30- and 54-months-of-age. Histological analysis at these later stages showed a loss of the photoreceptor layer, and OCT analysis showed absence of the layering of the retina. However, the thickness between the inner limiting membrane and the outer plexiform layer was about 1.7 times thicker than the corresponding thickness of WT rabbits in the OCT images. This thickening was caused by a marked gliosis of the entire retina which was confirmed by light and transmission electron microscopy. In addition, immunohistochemical analysis showed there was excessive staining of the glial fibrillary acid protein in the older P347L Tg rabbits although the rod ON bipolar cells and horizontal cells were still present in the inner nuclear layer. Our results indicate that the P347L Tg rabbit progressed to complete photoreceptor loss within 30- and 54-months-of-age and severe gliosis altered the morphology of the retina.

    DOI: 10.1016/j.exer.2019.04.026

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  16. Steeper Macular Curvature in Eyes With Non-Highly Myopic Retinitis Pigmentosa 査読有り 国際誌

    Komori Shiori, Ueno Shinji, Ito Yasuki, Sayo Akira, Meinert Monika, Kominami Taro, Inooka Daiki, Kitagawa Masahiro, Nishida Kazuki, Takahashi Kunihiko, Matsui Shigeyuki, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   60 巻 ( 8 ) 頁: 3135 - 3141   2019年7月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Investigative Ophthalmology and Visual Science  

    PURPOSE. A posterior staphyloma has been reported to be present in some eyes with retinitis pigmentosa (RP), and the purpose of this study was to determine the macular curvature of non-highly myopic RP eyes. METHODS. This was a retrospective, observational study. The medical charts of the right eyes of 143 patients with RP and 60 controls whose axial length ranged from 21.5 mm to 26.0 mm were reviewed. The mean curvature of Bruch’s membrane within 6 mm of the central macula obtained from the horizontal optical coherence tomographic images were evaluated as the mean macular curvature index (MMCI). The relationships between the MMCI and other clinical factors were assessed. RESULTS. The mean MMCI of RP patients (13.73 6 9.63 3 10−5 lm−1) was significantly lower than that of the controls (−6.63 6 5.63 3 10−5 lm−1). This indicated a deeper concave shape of the macula in RP eyes (P < 0.001). The MMCI was significantly correlated with the age (r = 0.20; P=0.016) and the axial length (r −0.24; P 0.004). Further analysis suggested a nonlinear effect of the ellipsoid zone width on the macular curvature in the RP eyes. CONCLUSIONS. There is a high incidence of steeper macular curvatures even in non-highly myopic RP eyes, and the steepness was also affected by the degree of photoreceptor degeneration.

    DOI: 10.1167/iovs.19-27334

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  17. Electrically Evoked Potentials Are Reduced Compared to Axon Numbers in Rhodopsin P347L Transgenic Rabbits With Severe Photoreceptor Degeneration

    Kominami Taro, Ueno Shinji, Nishida Kentaro, Inooka Daiki, Kominami Azusa, Kondo Mineo, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   60 巻 ( 7 ) 頁: 2543 - 2550   2019年6月

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    記述言語:日本語   出版者・発行元:Investigative Ophthalmology and Visual Science  

    PURPOSE. To determine the relationship between the amplitudes of the electrically evoked potentials (EEPs) and the number of optic nerve axons at a late stage of retinal degeneration in rhodopsin P347L transgenic (Tg) rabbits, a model of retinitis pigmentosa. METHODS. Six eyes of six wild-type (WT) (43.8 ± 7.5 months of age) and six eyes of six Tg (40.3 ± 2.6 months of age) rabbits were studied. The EEPs were elicited by 1 to 5 mA of transcorneal electrical stimulation. The first positive wave, the P1 component, was analyzed. After euthanasia, the number of axons in the optic nerve was counted. RESULTS. The threshold current to elicit a P1 was significantly higher in Tg rabbits than WT rabbits. The amplitude of P1 elicited by 5 mA in Tg rabbits was about 24% of that in WT rabbits (P < 0.01). The number of axons in the optic nerve of Tg rabbits was reduced to about 59% of that of WT rabbits (P < 0.01). The correlation between the axon number and the amplitude of the P1 in Tg and WT rabbits was not significant. The mean ratio of the P1 amplitude/axon in Tg rabbits was decreased to 53% of that in WT rabbits (P < 0.05). CONCLUSIONS. The degree of reduction in the EEP in Tg rabbits is more severe than the reduction in the number of optic nerve axons. The use of transcorneal electrical stimulation to determine the suitable candidates for prosthesis at the end-stage of retinitis pigmentosa may underestimate the condition of the optic nerves.

    DOI: 10.1167/iovs.19-26972

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  18. Associations Between Outer Retinal Structures and Focal Macular Electroretinograms in Patients with Retinitis Pigmentosa

    Kominami Taro, Ueno Shinji, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

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  19. Temporal properties of flicker ERGs in a transgenic rabbit model of retinitis pigmentosa

    Ueno Shinji, Okado Satoshi, Kominami Taro, Inooka Daiki, Nakanishi Ayami, Sayo Akira, Kondo Mineo, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

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  20. Significant Relationship of Visual Field Sensitivity in Central 10 degrees to Thickness of Retinal Layers in Retinitis Pigmentosa

    Sayo Akira, Ueno Shinji, Kominami Taro, Okado Satoshi, Inooka Daiki, Komori Shiori, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 8 ) 頁: 3469 - 3475   2018年7月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Investigative Ophthalmology and Visual Science  

    PURPOSE. To determine the relationship between the sensitivity of the retina in the central 108 and the thickness of the retinal layers in patients with retinitis pigmentosa (RP). METHODS. Fifty-two RP patients were studied. All of the patients had been examined by the Humphrey Field Analyzer 10-2 program (HFA10-2) and spectral-domain optical coherence tomography (SD-OCT). The thicknesses of the photoreceptor outer segment (OS), outer nuclear layer (ONL), inner nuclear layer (INL), and the retinal nerve fiber layer (RNFL) were measured at 1°, 3°, 5°, 7°, and 9° from the fovea. The same measurements were made on the SD-OCT images of 40 healthy subjects and used as controls. The relationships between the retinal sensitivities and retinal layer thicknesses were determined. RESULTS. The thicknesses of the OS and ONL and their product were significantly and positively correlated with the retinal sensitivities. The thickness of the INL was significantly and negatively correlated with the sensitivity. The strongest correlation with the sensitivity was with the OS thickness (marginal R 2 [mR 2 ] = 0.525, P < 0.001), followed by the product of the OS and ONL thicknesses (mR 2 = 0.420, P < 0.001), ONL thickness (mR 2 = 0.416, P < 0.001), and the INL thickness (mR 2 = 0.014, P = 0.044). The thickness of the RNFL was not correlated with the sensitivity (mR 2 = 0.005, P = 0.331). CONCLUSIONS. In contrast to previous reports, the thickness of the OS reflected the retinal sensitivity better than the product of OS and ONL.

    DOI: 10.1167/iovs.18-24635

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  21. Relationship of visual field sensitivity in central 10-degrees to thickness of different retinal layers in eyes of patients with retinitis pigmentosa

    Sayo Akira, Ueno Shinji, Kominami Taro, Inooka Daiki, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

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  22. Quantification of macular microvascular changes in patients with retinitis pigmentosa using optical coherence tomography angiography

    Inooka Daiki, Ueno Shinji, Kominami Taro, Sayo Akira, Okado Satoshi, Ito Yasuki, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

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  23. Associations Between Outer Retinal Structures and Focal Macular Electroretinograms in Patients with Retinitis Pigmentosa

    Kominami Taro, Ueno Shinji, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

  24. Temporal properties of flicker ERGs in a transgenic rabbit model of retinitis pigmentosa

    Ueno Shinji, Okado Satoshi, Kominami Taro, Inooka Daiki, Nakanishi Ayami, Sayo Akira, Kondo Mineo, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

  25. Relationship of visual field sensitivity in central 10-degrees to thickness of different retinal layers in eyes of patients with retinitis pigmentosa

    Sayo Akira, Ueno Shinji, Kominami Taro, Inooka Daiki, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

  26. Quantification of macular microvascular changes in patients with retinitis pigmentosa using optical coherence tomography angiography

    Inooka Daiki, Ueno Shinji, Kominami Taro, Sayo Akira, Okado Satoshi, Ito Yasuki, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 9 ) 頁: .   2018年7月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

  27. Quantification of Macular Microvascular Changes in Patients With Retinitis Pigmentosa Using Optical Coherence Tomography Angiography

    Inooka Daiki, Ueno Shinji, Kominami Taro, Sayo Akira, Okado Satoshi, Ito Yasuki, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   59 巻 ( 1 ) 頁: 433-438   2018年1月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.1167/iovs.17-23202

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  28. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants

    Kominami Azusa, Ueno Shinji, Kominami Taro, Nakanishi Ayami, Ito Yasuki, Fujinami Kaoru, Tsunoda Kazushige, Hayashi Takaaki, Kikuchi Sachiko, Kameya Shuhei, Iwata Takeshi, Terasaki Hiroko

    OPHTHALMIC GENETICS   39 巻 ( 2 ) 頁: 255 - 262   2018年

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Ophthalmic Genetics  

    Background: Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been definitively determined. The purpose of this study was to report the phenotype of a case of POC1B-associated cone dystrophy. Materials and methods: The medical chart of one case diagnosed with cone dystrophy was reviewed. Results: The patient was a 20-year-old Japanese man whose chief complaint was a progressive decrease in his central vision. His decimal best-corrected visual acuity was 0.2 for the right and 0.3 for the left. Fundus examinations showed no abnormalities. The photopic electroretinograms were nonrecordable, but the scotopic electroretinograms were within normal limits. Optical coherence tomography detected a blurry line in the region of the external limiting membrane and ellipsoid zone. Adaptive optics images showed sparsely distributed cone cells around the fovea. The patient was initially diagnosed with incomplete achromatopsia. Whole-exome sequence with targeted analysis identified new compound heterozygous mutations of c.G1355A (p R452Q) and c.C987A (pY329X) in the POC1B gene. The patient was then diagnosed with cone dystrophy. Conclusions: The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases.

    DOI: 10.1080/13816810.2017.1408846

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  29. Longitudinal study of visual field changes determined by Humphrey Field Analyzer 10-2 in patients with Retinitis Pigmentosa

    Sayo Akira, Ueno Shinji, Kominami Taro, Nishida Kazuki, Inooka Daiki, Nakanishi Ayami, Yasuda Shunsuke, Okado Satoshi, Takahashi Kunihiko, Matsui Shigeyuki, Terasaki Hiroko

    SCIENTIFIC REPORTS   7 巻 ( 1 ) 頁: 16383   2017年11月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Scientific Reports  

    The aim of this study is to determine the progress of the visual field defects obtained by the Humphrey Field Analyzer 10-2 program (HFA 10-2) in patients with retinitis pigmentosa (RP). The medical records of 45 eyes of 45 RP patients who had at least 3 visual field tests were reviewed. Linear mixed models were used to follow the changes of the mean deviation and the average sensitivity of 4, 12, and 20 points in three concentric squares, designated as S4, S12, and S20. The median follow-up time was 3.86 years [range: 1.93 to 9.86, IQR (Interquartile range): 3.01 to 4.93]. The median number of the visual field tests was 3 (range: 3 to 15, IQR: 3 to 4). The mean change of the MD was -0.46 dB/year (-5.80%/year). When the patients were grouped by the average initial MD, the less advanced group had slower progressions than the more advanced group in S4, S12, and S20. These results should be useful in understanding the pathological changes of RP in the central visual field.

    DOI: 10.1038/s41598-017-16640-7

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  30. Temporal Properties of Flicker ERGs in Rabbit Model of Retinitis Pigmentosa

    Okado Satoshi, Ueno Shinji, Kominami Taro, Nakanishi Ayami, Inooka Daiki, Sayo Akira, Kondo Mineo, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   58 巻 ( 12 ) 頁: 5518-5525   2017年10月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.1167/iovs.17-22332

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  31. Associations Between Outer Retinal Structures and Focal Macular Electroretinograms in Patients With Retinitis Pigmentosa

    Kominami Taro, Ueno Shinji, Kominami Azusa, Nakanishi Ayami, Yasuda Shunsuke, Piao Chang-Hua, Okado Satoshi, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   58 巻 ( 12 ) 頁: 5122 - 5128   2017年10月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Investigative Ophthalmology and Visual Science  

    PURPOSE. Our earlier study showed that the width of the intact ellipsoid zone (EZ) of the photoreceptors was significantly but weakly correlated with the amplitudes of the focal macular ERGs (FMERGs). The aim of this study was to determine a microstructure of the photoreceptors in the spectral-domain optical coherence tomographic (SD-OCT) images that was more strongly correlated with the FMERG parameters in eyes with retinitis pigmentosa (RP). METHODS. This was a retrospective, observational study. The medical records of 65 patients with RP were reviewed. FMERGs were elicited by a 15-degree stimulus spot. The width of the EZ and the outer segment (OS) area surrounded by EZ and retinal pigment epithelium in the SD-OCT images within 15 degrees of the fovea were evaluated. Spearman correlation tests and multiple stepwise regression analyses were performed. RESULTS. There was a strong correlation between the amplitudes of FMERGs and the EZ width (r = 0.68 for a-wave amplitude; r = 0.64 for b-wave amplitude), and also between the amplitudes of the FMERGs and the OS area (r = 0.69 for a-wave amplitude; r = 0.67 for bwave amplitude). However, some patients had long EZ widths but had severely reduced FMERGs. Multiple stepwise regression analyses showed that the OS area was the only significant independent predictor of the amplitudes of FMERGs (P < 0.001). CONCLUSIONS. The OS area might be a better morphological structure to use to predict the physiological function of the macula.

    DOI: 10.1167/iovs.17-22040

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  32. Samd7 is a cell type-specific PRC1 component essential for establishing retinal rod photoreceptor identity

    Omori Yoshihiro, Kubo Shun, Kon Tetsuo, Furuhashi Mayu, Narita Hirotaka, Kominami Taro, Ueno Akiko, Tsutsumi Ryotaro, Chaya Taro, Yamamoto Haruka, Suetake Isao, Ueno Shinji, Koseki Haruhiko, Nakagawa Atsushi, Furukawa Takahisa

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA   114 巻 ( 39 ) 頁: E8264 - E8273   2017年9月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Proceedings of the National Academy of Sciences of the United States of America  

    Precise transcriptional regulation controlled by a transcription factor network is known to be crucial for establishing correct neuronal cell identities and functions in the CNS. In the retina, the expression of various cone and rod photoreceptor cell genes is regulated by multiple transcription factors; however, the role of epigenetic regulation in photoreceptor cell gene expression has been poorly understood. Here, we found that Samd7, a rod-enriched sterile alpha domain (SAM) domain protein, is essential for silencing nonrod gene expression through H3K27me3 regulation in rod photoreceptor cells. Samd7-null mutant mice showed ectopic expression of nonrod genes including S-opsin in rod photoreceptor cells and rod photoreceptor cell dysfunction. Samd7 physically interacts with Polyhomeotic homologs (Phc proteins), components of the Polycomb repressive complex 1 (PRC1), and colocalizes with Phc2 and Ring1B in Polycomb bodies. ChIP assays showed a significant decrease of H3K27me3 in the genes up-regulated in the Samd7-deficient retina, showing that Samd7 deficiency causes the derepression of nonrod gene expression in rod photoreceptor cells. The current study suggests that Samd7 is a cell type-specific PRC1 component epigenetically defining rod photoreceptor cell identity.

    DOI: 10.1073/pnas.1707021114

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  33. Contributions of Second- and Third-Order Retinal Neurons to Cone Electroretinograms after Loss of Rod Function in Rhodopsin P347L Transgenic Rabbits

    Kominami Taro, Ueno Shinji, Okado Satoshi, Nakanishi Ayami, Kondo Mineo, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   58 巻 ( 8 ) 頁: .   2017年6月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Web of Science

  34. Course of visual field changes in retinitis pigmentosa patients followed by Humphrey Field Analyzer 10-2 program

    Sayo Akira, Ueno Shinji, Nakanishi Ayami, Kominami Taro, Okado Masashi, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   58 巻 ( 8 ) 頁: .   2017年6月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    Web of Science

  35. Course of visual field changes in retinitis pigmentosa patients followed by Humphrey Field Analyzer 10-2 program

    Sayo Akira, Ueno Shinji, Nakanishi Ayami, Kominami Taro, Okado Masashi, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   58 巻 ( 8 ) 頁: .   2017年6月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

  36. Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia

    Ueno Shinji, Nakanishi Ayami, Sayo Akira, Kominami Taro, Ito Yasuki, Hayashi Takaaki, Tsunoda Kazushige, Iwata Takeshi, Terasaki Hiroko

    DOCUMENTA OPHTHALMOLOGICA   134 巻 ( 2 ) 頁: 141 - 147   2017年4月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Documenta Ophthalmologica  

    Purpose: Patients with complete achromatopsia (ACHM) lack cone function, and patients with incomplete ACHM have relatively good visual acuity with residual color vision. The pathological mechanism(s) underlying incomplete ACHM has not been determined. The purpose of this study was to determine the pathophysiology of ACHM in two siblings: one with complete ACHM and the other with incomplete ACHM. Methods: The medical charts of the two siblings were reviewed. Results: The sibling with incomplete ACHM had decimal visual acuities that ranged from 0.4 to 0.6 and had moderate color blindness in both eyes. Her younger brother was diagnosed with complete ACHM and was not able to hold fixation, had severe pendular nystagmus, visual acuity that ranged from 0.08 to 0.1, and severe color vision abnormalities in both eyes. Optical coherence tomography (OCT) showed that the ellipsoid zone (EZ) was disruptive in the macular region in both patients. However, careful examination of the OCT images in the incomplete ACHM patient showed a high-density EZ in the central fovea. Adaptive optics (AO) fundus imaging of the sibling with incomplete ACHM revealed sparse cone mosaics remaining within 1° of the foveal center with no mosaics visible outside the central fovea. AO fundus imaging could not be performed in Case 2 because of the severe nystagmus. Conclusion: Our results showed that cone mosaics were present in the central fovea in the sibling with incomplete ACHM patient. This may explain the better visual acuity and color vision in this sibling.

    DOI: 10.1007/s10633-017-9577-y

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  37. Contributions of second- and third-order retinal neurons to cone electroretinograms after loss of rod function in rhodopsin P347l transgenic rabbits

    Kominami T., Ueno S., Okado S., Nakanishi A., Kondo M., Terasaki H.

    Investigative Ophthalmology and Visual Science   58 巻 ( 3 ) 頁: 1417 - 1424   2017年3月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Investigative Ophthalmology and Visual Science  

    PURPOSE. To determine the contribution of second- and third-order retinal neurons to the photopic electroretinograms (ERGs) after the degeneration of the rods in rhodopsin P347L transgenic rabbits (Tg). METHODS. Four wild-type (WT) rabbits and four Tg rabbits were studied at 18 months of age. The photopic ERGs elicited at stimulus onset and offset were analyzed. To block different retinal pathways, 2-amino-4-phosphonobutyric acid (APB), 6-cyano-7-nitroquinoxaline-2, 3 (1H,4H)-dione (CNQX), tetrodotoxin (TTX), and N-methyl-DL-aspartic acid (NMDA) were injected intravitreally. Digital subtraction of the postdrug ERGs from the predrug ERGs was used to determine the contributions of the ON-components blocked by APB, the OFF-components blocked by CNQX, and the third-order neurons blocked by TTX+NMDA. RESULTS. Contribution of the cone photoreceptors to the photopic ERGs in Tg rabbits was approximately 10% of that in WT rabbits. The amplitudes of the positive waves of the ON-components at stimulus onset in Tg rabbits were approximately one-half as large as those in WT. On the other hand, the amplitudes of the positive waves of the OFF-components at stimulus offset in Tg rabbits were approximately 1.4 to 2.3 times larger than those in WT. Transgenic rabbits had a positive wave at stimulus offset, which was reduced after the TTX+NMDA injection. CONCLUSIONS. A reduced ON-component and an augmented OFF-component with abnormal responses of the third-order neurons contributed to the cone ERGs after the loss of rod function in Tg rabbits. Our results suggest a complex synaptic remodeling of the residual retinal cells in the advanced stage in Tg rabbits.

    DOI: 10.1167/iovs.16-20344

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  38. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant

    Ueno Shinji, Nakanishi Ayami, Kominami Taro, Ito Yasuki, Hayashi Takaaki, Yoshitake Kazutoshi, Kawamura Yuichi, Tsunoda Kazushige, Iwata Takeshi, Terasaki Hiroko

    JAPANESE JOURNAL OF OPHTHALMOLOGY   61 巻 ( 1 ) 頁: 92 - 98   2017年1月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Japanese Journal of Ophthalmology  

    Purpose: The 2 most common causative genes for achromatopsia (ACHM) are CNGA3 and CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases. The cone mosaics in eyes with CNGA3 and CNGB3 variants are severely disrupted; the cone mosaics in patients with GNAT2-associated ACHM; however, have been reported to show a contiguous pattern in adaptive optics (AO) retinal images. The purpose of this study was to analyze the cone mosaic of another case of GNAT2-associated ACHM. Patient and methods: The patient was a 17-year-old Japanese boy. Comprehensive ocular examinations including fundus photography, electroretinography (ERGs), optical coherence tomography (OCT), and whole-exome analysis were performed. The cone mosaic was recorded with a flood-illuminated AO fundus camera, and the cone density was compared with those of 10 normal control eyes. Results: The patient had the typical phenotype of ACHM, and a novel homozygous variant, c.730_743del, in GNAT2 was identified. The fundus did not show any specific abnormalities, and the OCT images showed the presence of the ellipsoid zone. The AO fundus image showed a clearly defined cone mosaic around the fovea. The cone density at 500 μm from the fovea was reduced by 15–30 % as compared with those of the normal eyes. Conclusions: This is the first description of a Japanese patient with ACHM with a novel GNAT2 variant. The eyes of this patient had a preserved cone structure with loss of function.

    DOI: 10.1007/s10384-016-0484-7

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書籍等出版物 5

  1. “白点状眼底” 一目でわかる眼疾患の見分け方 下巻 ぶどう膜疾患 網膜・硝子体疾患

  2. ”眼白皮症” 眼疾患アトラスシリーズ 第5巻「目と全身病アトラス」 2021

  3. ”白点状眼底” 眼科疾患ビジュアルラーニング 2020

  4. ”すべて見せます!患者説明同意書マニュアル 硝子体手術-水晶体核落下” 臨床眼科 増刊号2020

  5. “眼白皮症(眼白子症)” 眼疾患アトラスシリーズ 第2巻「後眼部アトラス」 2019

MISC 1

  1. POC1Bの遺伝子変異を認めた眼底正常の錐体ジストロフィの1症例

    小南梓, 上野真治, 中西絢美, 小南太郎, 岡戸聡志, 伊藤逸毅, 藤波芳, 角田和繁, 岩田岳, 寺崎浩子  

    日本眼科学会雑誌121 巻   2017年

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講演・口頭発表等 14

  1. The International Crosstalk Symposium by Young Ophthalmologists “Electrically evoked potentials in rabbits with severe photoreceptor degeneration. 招待有り

    2021年4月10日 

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    開催年月日: 2021年4月

    記述言語:英語   会議種別:シンポジウム・ワークショップ パネル(指名)  

  2. 卵黄様黄斑ジストロフィ患者における脈絡膜新生血管合併症例の検討

    小南太郎

    第67回日本臨床視覚電気生理学会  2019年6月28日 

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    開催年月日: 2019年6月

  3. シンポジウム1 ERG 私の一工夫“遺伝子改変動物のERG

    小南太郎

    第66回日本臨床視覚電気生理学会  2018年9月22日 

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    開催年月日: 2018年9月

  4. 網膜変性ウサギにおける視細胞高度変性後の網膜・視神経の機能と形態 招待有り

    小南太郎

    第8回わかもと先進眼科医療研究会(WACAMOTO)  2018年8月3日 

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    開催年月日: 2018年8月

    記述言語:日本語   会議種別:シンポジウム・ワークショップ パネル(指名)  

  5. 網膜色素変性における黄斑部局所網膜電図と光鑑賞断層計像との相関

    小南太郎

    第65回日本臨床視覚電気生理学会,  2017年11月17日 

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    開催年月日: 2017年11月

    記述言語:日本語   会議種別:口頭発表(一般)  

  6. 網膜変性ウサギのERGの起源 招待有り

    小南太郎

    2017年11月4日 

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    開催年月日: 2017年11月

    記述言語:日本語   会議種別:公開講演,セミナー,チュートリアル,講習,講義等  

  7. 視力良好な網膜色素変性における黄斑部局所網膜電図と網膜外層構造

    小南太郎

    第121回日本眼科学会総会  2017年4月7日 

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    開催年月日: 2017年4月

    記述言語:日本語   会議種別:口頭発表(一般)  

  8. ンタイ高度変性後の網膜変性ウサギにおける錐体系ERGのOFF反応増強

    小南太郎

    第64回日本臨床視覚電気生理学会  2016年9月30日 

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    開催年月日: 2016年9月 - 2016年10月

    記述言語:日本語   会議種別:口頭発表(一般)  

  9. 網膜変性ウサギの視細胞消失後の視神経機能と形態の変化

    小南太郎

    第120回日本眼科学会総会  2016年4月9日 

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    開催年月日: 2016年4月

    記述言語:日本語   会議種別:口頭発表(一般)  

  10. ロドプシンP347L遺伝子改変ウサギの網膜機能・組織の長期経過 招待有り

    小南太郎

    2015年10月31日 

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    開催年月日: 2015年10月

    記述言語:日本語   会議種別:公開講演,セミナー,チュートリアル,講習,講義等  

  11. ピカチュリンノックアウトマウスのフリッカERGにおけるON型双極細胞機能の検討

    小南太郎

    第63回日本臨床視覚電気生理学会  2015年8月29日 

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    開催年月日: 2015年8月

    記述言語:日本語   会議種別:口頭発表(一般)  

  12. ロドプシンP347L遺伝子改変ウサギの長期の網膜機能の推移

    小南太郎

    第62回日本臨床視覚電気生理学会  2014年10月4日 

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    開催年月日: 2014年10月

    記述言語:日本語   会議種別:口頭発表(一般)  

  13. 当院における非HIVニューモシスチス肺炎14症例の検討

    小南太郎

    第100回日本呼吸器学会東海地方学会  2011年10月29日 

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    開催年月日: 2011年10月

    記述言語:日本語   会議種別:口頭発表(一般)  

  14. RFA後の肝門部胆管閉塞に対しドレナージを施行後抜去しえた転移性肝癌の一例

    小南太郎

    第113回日本消化器病学会東海支部会  2010年11月27日 

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    開催年月日: 2010年11月

    記述言語:日本語   会議種別:口頭発表(一般)  

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科研費 1

  1. 糖尿病網膜症に対する網膜イメージングと網膜電図による病態解析

    研究課題/研究課題番号:19K18876  2019年4月 - 2020年3月

    科学研究費助成事業  若手研究

    小南 太郎

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    担当区分:研究代表者 

    配分額:3900000円 ( 直接経費:3000000円 、 間接経費:900000円 )

    糖尿病網膜症患者において画像解析や電気生理学的手法を用いた機能解析を行い、糖尿病網膜症増悪に関する予後因子の同定を目指す。予後不良因子が判明すれば糖尿病網膜症患者の適切なフォローアップにつながり、これまでであれば失明していた患者の視機能を救い、また我が国の増加の一途をたどる医療費の削減の一助にもなると考えられる。
    具体的には網膜光干渉計や補償光学眼底カメラなどによる構造解析や網膜電図を用いた機能解析を行う。
    糖尿病網膜症の病態解析を行うために名古屋大学医学部附属病院で過去に補償光学眼底カメラを撮像した患者の中から糖尿病患者225人のデータを抽出し後方視 的に診療録を確認し視力や黄斑局所網膜電図、網膜光干渉計(OCT)があるものを抽出し、初診時から最終受診時までの経過から予後に関する画像に関する因子の 解析の準備していた。 また名古屋大学医学部附属病院に、糖尿病網膜症の評価目的に初診となった患者のうちHbA1cが9%を超えるような患者に対して、OCTを撮像しOCTangiography画像 を形成し無血管野や中心の無灌流域の大小などを評価した。さらには今後フォローアップする中で増殖性変化を生じる群と生じない群とで初診時の網膜構造に差異が無いかの評価を行うことで糖尿病網膜症の予後を決定づける画像に関する因子が同定できないか検討する予定としていた。 名古屋大学眼科学教室で行っている北海道八雲町検診において先行して記録していた手持ち網膜電図の検査結果500人分を解析し、患者背景と網膜電図のパラ メータとの間に相関関係があることを見出した。今後可能であれば先行して記録した500人に対して同様の手持ち網膜電図検査を再検し、検診において同時に行 う全身的な検査の結果新たに全身合併症が生じた受診者がいれば、網膜電図の変化との間に相関関係があるかどうかを評価する予定であった。 これらの評価により糖尿病網膜症の予後を決定する因子が検出されれば、新たな治療ガイドラインや余剰な医療の容易を決めるのに有意義で重要である可能性がある。