Updated on 2024/10/04

写真a

 
KOMINAMI Taro
 
Organization
Nagoya University Hospital Ophthalmology Lecturer
Graduate School
Graduate School of Medicine
Title
Lecturer

Degree 1

  1. 博士(医学) ( 2016.9   名古屋大学 ) 

Research Areas 2

  1. Life Science / Ophthalmology

  2. Informatics / Intelligent informatics

Current Research Project and SDGs 1

  1. Evaluation of Progress in Retinits Pigmentosa using machine learning

Research History 13

  1. Nagoya University Hospital   Ophthalmology   Assistant Professor

    2021.10

  2. Nagoya University Hospital   Opthalmology   Clinical Assistant Professor

    2021.9

  3. Komaki City Hospital   Ophthalmology

    2020.12 - 2021.8

  4. Agency for   Division of Medical Arts and Data Sharing   Deputy Manager

    2020.4 - 2020.11

  5. 名古屋大学医学部附属病院

    2018.4

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    Country:Japan

  6. Nagoya University   Nagoya University Hospital Ophthalmology   Assistant professor of hospital

    2018.4 - 2020.3

  7. 名古屋記念病院

    2017.7 - 2018.3

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    Country:Japan

  8. Nagoya Memorial Hospital   Ophthalmology

    2017.7 - 2018.3

  9. 名古屋大学医学部附属病院

    2015.4 - 2017.6

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    Country:Japan

  10. Nagoya University   Hospital

    2015.4 - 2017.6

  11. 安城更生病院

    2013.4 - 2015.3

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    Country:Japan

  12. 名古屋大学医学部附属病院

    2012.4 - 2013.3

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    Country:Japan

  13. 小牧市民病院

    2010.4 - 2012.3

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    Country:Japan

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Education 2

  1. Nagoya University   Graduate School, Division of Medical Sciences

    2013.4 - 2016.9

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    Country: Japan

  2. Nagoya University   Faculty of Medicine

    2004.4 - 2010.3

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    Country: Japan

Professional Memberships 4

  1. 日本臨床視覚電気生理学会

  2. 日本眼科学会

  3. 日本眼科学会

  4. 日本臨床視覚電気生理学会

Awards 1

  1. JOS Young Investigators Award 2021

    2021.4   Japanese Ophthalmic Society   Electrically evoked potentials are reduced compared to axon numbers in rhodopsin P347L transgenic rabbits with severe photoreceptor degeneration.

    Taro Kominami

 

Papers 53

  1. Impact of drainage retinotomy on surgical outcomes of retinal detachment: insights from the Japan-Retinal Detachment Registry

    Fukuyama H., Ishikawa H., Gomi F., 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., Matsu-moto 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., Kutagawa Y., Shiraga F., Morizane Y., Kimura S., Ikeda T., Kida T., Sato T., Fukumoto M., Emi K., Nakashima H., Ohji M.

    Scientific Reports   Vol. 14 ( 1 )   2024.12

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    We investigated the impact of drainage retinotomy on the outcome of pars plana vitrectomy for repair of rhegmatogenous retinal detachment (RRD). This study was a retrospective observational multicenter study. All patients were registered with the Japan-Retinal Detachment Registry. We analyzed 1887 eyes with RRD that had undergone vitrectomy and were observed for 6 months between February 2016 and March 2017. We compared the baseline characteristics and postoperative outcomes between eyes with and without drainage retinectomy. We then performed propensity score matching using preoperative findings as covariates to adjust for relevant confounders. Of 3446 eyes, 1887 met the inclusion criteria. Among them, 559 eyes underwent vitrectomy with drainage retinotomy, and 1328 eyes underwent vitrectomy without drainage retinotomy. After propensity score matching, each group comprised 544 eyes. There was no significant difference between the two groups in BCVA at 6 months after vitrectomy (0.181 vs. 0.166, P = 0.23), the primary anatomical success rate (6.3% vs. 4.4%, P = 0.22), or the rate of secondary surgery for ERM within 6 months (1.5% vs. 1.3%, P = 1.0). Drainage retinectomy does not increase the risk of decreased postoperative BCVA, surgical failure, or secondary surgery for ERM within six months outcomes.

    DOI: 10.1038/s41598-024-58453-5

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  2. GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.

    Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S

    Retina (Philadelphia, Pa.)   Vol. 44 ( 10 ) page: 1836 - 1844   2024.10

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    Language:English   Publisher:Retina  

    Purpose:To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM.Methods:The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study.Results:Thirty-six causative variants of ACHM were identified in 26 families via whole-exome sequencing: PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families). However, none of the 6 causative variants that are known to cause ACHM, or the 275 other genes listed in RetNet, were observed in 19 families. A significant trend toward older age and worsening of ellipsoid zone disruption on optical coherence tomography images was observed (P < 0.01). Progressive ellipsoid zone disruptions were observed in 13 eyes of seven patients during the follow-up visits. These patients harbored one or more variants in PDE6C.Conclusion:The ACHM phenotype observed in this study was similar to those observed in previous reports; however, the causative gene variants differed from those in Europe. The low identification ratio of causative genes in whole-exome sequencing suggests the presence of unique hotspots in Japanese patients with ACHM that were not detectable via ordinal whole-exome sequencing.

    DOI: 10.1097/IAE.0000000000004170

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  3. 症例報告 片眼性網膜色素変性が疑われる症例に対してマイクロペリメータMP-3で評価を行った1例

    河合 秀紀, 井岡 大河, 太田 淳也, 後藤 健介, 小南 太郎, 小栁 俊人

    眼科   Vol. 66 ( 8 ) page: 791 - 798   2024.8

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    Publisher:金原出版  

    DOI: 10.18888/ga.0000003731

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  4. Genetic and Clinical Features of<i> ABCA4</i>-Associated Retinopathy in a Japanese Nationwide Cohort

    Mizobuchi, K; Hayashi, T; Tanaka, K; Kuniyoshi, K; Murakami, Y; Nakamura, N; Torii, K; Mizota, A; Sakai, D; Maeda, A; Kominami, T; Ueno, S; Kusaka, S; Nishiguchi, KM; Ikeda, Y; Kondo, M; Tsunoda, K; Hotta, Y; Nakano, T

    AMERICAN JOURNAL OF OPHTHALMOLOGY   Vol. 264   page: 36 - 43   2024.8

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    Language:English   Publisher:American Journal of Ophthalmology  

    Purpose: To clarify the genetic and clinical features of Japanese patients with ABCA4-associated retinopathy. Design: Retrospective, multicenter cohort study. Methods: Patients with retinal degeneration and biallelic ABCA4 variants were recruited from 13 different hospitals. Whole exome sequencing analysis was used for genetic testing. Comprehensive ophthalmic examinations were performed on matched patients. The primary outcome measure was identifying multimodal retinal imaging findings associated with disease progression. Results: This study included 63 patients: 19 with missense/missense, 23 with missense/truncation, and 21 with truncation/truncation genotypes. In total, 62 variants were identified, including 29 novel variants. Six patients had a mild phenotype characterized by foveal-sparing or preserved foveal structure, including 4 with missense/missense and 2 with missense/truncation genotypes. The p.Arg212His variant was the most frequent in patients with mild phenotypes (4/12 alleles). Clinical findings showed a disease duration-dependent worsening of the phenotypic stage. Patients with the truncation/truncation genotype exhibited rapid retinal degeneration within a few years and definite fundus autofluorescence imaging patterns, including hyper autofluorescence at the macula and few or no flecks. Conclusions: Our results indicate that missense/missense or missense/truncation genotypes, including the p.Arg212His variant, are associated with a relatively mild phenotype. In contrast, the truncation/truncation genotype causes rapid and severe retinal degeneration in Japanese patients with ABCA4-associated retinopathy. These data are vital in predicting patient prognosis, guiding genetic counseling, and stratifying patients for future clinical trials.

    DOI: 10.1016/j.ajo.2024.03.007

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  5. Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases

    Goto, K; Koyanagi, Y; Akiyama, M; Murakami, Y; Fukushima, M; Fujiwara, K; Iijima, H; Yamaguchi, M; Endo, M; Hashimoto, K; Ishizu, M; Hirakata, T; Mizobuchi, K; Takayama, M; Ota, J; Sajiki, A; Kominami, T; Ushida, H; Fujita, K; Kaneko, H; Ueno, S; Hayashi, T; Terao, C; Hotta, Y; Murakami, A; Kuniyoshi, K; Kusaka, S; Wada, Y; Abe, T; Nakazawa, T; Ikeda, Y; Momozawa, Y; Sonoda, KH; Nishiguchi, KM

    JOURNAL OF MEDICAL GENETICS   Vol. 61 ( 7 ) page: 613 - 620   2024.7

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    Language:English   Publisher:Journal of Medical Genetics  

    Background As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)-related genes in a large number of Japanese patients with RP by applying the standardised variant interpretation guidelines for Japanese patients with IRD (J-IRD-VI guidelines) built upon the American College of Medical Genetics and Genomics and the Association for Molecular Pathology rules, and assess the contribution of these genes in RP-allied diseases. Methods We assessed 2325 probands with RP (n=2155, including n=1204 sequenced previously with the same sequencing panel) and allied diseases (n=170, newly analysed), including Usher syndrome, Leber congenital amaurosis and cone-rod dystrophy (CRD). Target sequencing using a panel of 86 genes was performed. The variants were interpreted according to the J-IRD-VI guidelines. Results A total of 3564 variants were detected, of which 524 variants were interpreted as pathogenic or likely pathogenic. Among these 524 variants, 280 (53.4%) had been either undetected or interpreted as variants of unknown significance or benign variants in our earlier study of 1204 patients with RP. This led to a genetic diagnostic rate in 38.6% of patients with RP, with EYS accounting for 46.7% of the genetically solved patients, showing a 9% increase in diagnostic rate from our earlier study. The genetic diagnostic rate for patients with CRD was 28.2%, with RP-related genes significantly contributing over other allied diseases. Conclusion A large-scale genetic analysis using the J-IRD-VI guidelines highlighted the population-specific genetic findings for Japanese patients with IRD; these findings serve as a foundation for the clinical application of gene-specific therapies.

    DOI: 10.1136/jmg-2023-109750

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  6. A Case of Sickle Cell Retinopathy With Retinal Artery Occlusion in African-Japanese Patients

    Kato, Y; Kominami, T

    CUREUS JOURNAL OF MEDICAL SCIENCE   Vol. 16 ( 5 ) page: e60653   2024.5

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  7. Pathogenic variants of <i>MFRP</i> and <i>PRSS56</i> genes are major causes of nanophthalmos in Japanese patients

    Ota, J; Inooka, T; Okado, S; Maeda, N; Koyanagi, Y; Kominami, T; Nishiguchi, KM; Ueno, S

    OPHTHALMIC GENETICS   Vol. 44 ( 5 ) page: 423 - 429   2023.9

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    Language:English   Publisher:Ophthalmic Genetics  

    Background: Nanophthalmos (NNO) is a rare condition with significantly shorter axial length than normal. Several genes are known to cause NNO, among them the MFRP and PRSS56 genes have been reported to cause majority of NNOs. The purpose of this study was to determine the genetic basis of Japanese patients with NNO. Materials and Methods: We studied seven patients with NNO. Whole exome sequencing (WES) and Sanger sequencing were performed to determine the variants causing the NNO. We also reviewed the medical charts of the patients to determine the phenotype of these seven patients. Results: WES revealed that four patients from three families carried homozygous frameshift variants of the PRSS56 gene (c.1066dupC). Two novel variants of the MFRP gene were detected in the other two patients: one proband had a homozygous missense variant (c.1486 G>A) and the other had a compound heterozygous variant (c.1486 G>A and c.662_663insT). The axial length of the eight eyes with the PRSS56 variant was 15.69 ± 0.48 mm (mean ± SD) and that for the 4 eyes with the MFRP variant was 15.63 ± 0.69 mm. Three of the six cases with the PRSS56 or MFRP variant had the uveal effusion syndrome. Conclusions: NNOs in Japanese patients are caused by variants of the PRSS56 and MFRP genes as in other ethnic populations. In addition, two new variants of the MFRP gene were found in our cohort. The phenotypes and anomalies in Japanese patients with NNO were similar to those reported for other ethnic populations.

    DOI: 10.1080/13816810.2023.2208220

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  8. Assessment of factors affecting flicker ERGs recorded with RETeval from data obtained from health checkup screening. International journal

    Taiga Inooka, Taro Kominami, Shunsuke Yasuda, Yoshito Koyanagi, Junya Ota, Satoshi Okado, Ryo Tomita, Yasuki Ito, Takeshi Iwase, Hiroko Terasaki, Koji M Nishiguchi, Shinji Ueno

    PloS one   Vol. 18 ( 4 ) page: e0284686   2023.4

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    PURPOSE: To determine the factors significantly associated with the amplitudes and implicit times of the flicker electroretinograms (ERGs) recorded with the RETeval system by analyzing the comprehensive data obtained during a health checkup screening. METHODS: Flicker ERGs were recorded with the RETeval system from 373 individuals who had a normal fundus and optical coherence tomography images. The sex, age, anthropometric, ophthalmologic, and hematologic data were collected from all participants who were 40- to 89-years-of-age. Univariable and multivariable linear mixed effects regression analyses were performed to identify factors that were significantly associated with the implicit times and amplitudes of the RETeval flicker ERGs. RESULTS: Univariable linear mixed effects regression analysis showed significant correlations between the implicit times and the best-corrected visual acuity, the age, the axial length, the blood sugar level, and the blood urea nitrogen level. Analyses by multivariable linear mixed effects regression identified that the axial length (β = 0.28), the age (β = 0.24), and the blood sugar level (β = 0.092) were three independent factors that were significantly correlated with the implicit times of the RETeval flicker ERGs. Univariable linear mixed effects regression analysis also showed significant correlations between the amplitudes of the RETeval flicker ERGs and the age, the platelet count, and the creatinine level. Multivariable linear mixed effects regression models identified the age (β = -0.092), the platelet count (β = 0.099), and the creatinine level (β = -0.12) as three independent factors that were significantly correlated with the amplitudes of the RETeval flicker ERGs. However, the smoking habits, body mass index, and the blood pressure were not significantly correlated with either the implicit times or amplitudes of the RETeval flicker ERGs. CONCLUSIONS: Our results indicate that the age and some ophthalmologic and hematologic findings but not the anthropometric findings were significantly associated with the implicit times and amplitudes of the RETeval flicker ERGs. Thus, clinicians should remember these factors when analyzing the RETeval flicker ERGs.

    DOI: 10.1371/journal.pone.0284686

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  9. 特集 日本の眼の難病-何がどこまでわかってきたのか? 網膜色素変性

    小南 太郎, 西口 康二

    臨床眼科   Vol. 77 ( 1 ) page: 27 - 36   2023.1

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    Publisher:株式会社医学書院  

    DOI: 10.11477/mf.1410214679

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  10. Effect of surgeon-related factors on outcome of retinal detachment surgery: analyses of data in Japan-retinal detachment registry

    Yamakiri K., Sakamoto T., Koriyama C., Kawasaki R., Baba T., Nishitsuka K., Koto T., Terasaki H., Yamamoto S., Baba T., Sato E., Kitahashi M., Tatsumi T., Miura G., Niizawa T., Yamashita T., Otsuka H., Sameshima S., Yoshinaga N., Sonoda S., Hirakata A., Inoue M., Hirota K., Itoh Y., Orihara T., Emoto Y., Sano M., Takahashi H., Tokizawa R., Yamashita H., 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.

    Scientific Reports   Vol. 12 ( 1 )   2022.12

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    The purpose of this study was to investigate the effects of surgeon-related factors on the surgical outcome of pars plana vitrectomy (PPV) and scleral buckling (SB) surgery on eyes with a rhegmatogenous retinal detachment (RRD). This was a nationwide, multicenter, observational study of the data in the Japan-RD Registry. Registered cases that had undergone surgery for a RRD by 128 accredited surgeons in 26 institutions were studied. The surgeon-related factors that significantly affected surgical success and visual outcomes of simple RRD treated by PPV or SB at 6 months postoperatively were analyzed and compared. Among 3446 registered cases, 2533 cases met the inclusion criteria with 1896 in the PPV group and 637 cases in the SB group. The median total number of lifetime cases was 150 and the rate of surgeries/year was 22. Multivariate regression analyses showed that the number and rate of surgeries/year were not significantly associated with the surgical outcome in the PPV group. However, surgeons with a higher average annual number of surgeries had significantly better surgical outcomes in the SB group (P = 0.038). Analyses of a nationwide registry showed that SB but not PPV surgeries require sufficient experience and case numbers to acquire and maintain skills to treat RRDs successfully.

    DOI: 10.1038/s41598-022-07838-5

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  11. Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing. International journal

    Akiko Suga, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kaoru Fujinami, Yozo Miyake, Kazuki Kuniyoshi, Takaaki Hayashi, Kei Mizobuchi, Shinji Ueno, Hiroko Terasaki, Taro Kominami, Nobuhisa Nao-I, Go Mawatari, Atsushi Mizota, Kei Shinoda, Mineo Kondo, Kumiko Kato, Tetsuju Sekiryu, Makoto Nakamura, Sentaro Kusuhara, Hiroyuki Yamamoto, Shuji Yamamoto, Kiyofumi Mochizuki, Hiroyuki Kondo, Itsuka Matsushita, Shuhei Kameya, Takeo Fukuchi, Tetsuhisa Hatase, Masayuki Horiguchi, Yoshiaki Shimada, Atsuhiro Tanikawa, Shuichi Yamamoto, Gen Miura, Nana Ito, Akira Murakami, Takuro Fujimaki, Yoshihiro Hotta, Koji Tanaka, Takeshi Iwata

    Human mutation   Vol. 43 ( 12 ) page: 2251 - 2264   2022.12

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    Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.

    DOI: 10.1002/humu.24492

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  12. ASSESSMENTS OF MACULAR FUNCTION BY FOCAL MACULAR ELECTRORETINOGRAPHY AND STATIC PERIMETRY IN EYES WITH RETINITIS PIGMENTOSA

    Okado, S; Koyanagi, Y; Inooka, T; Kominami, T; Terasaki, H; Nishiguchi, KM; Ueno, S

    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES   Vol. 42 ( 11 ) page: 2184 - 2193   2022.11

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    Language:English   Publisher:Retina  

    Purpose:To assess the macular function by focal macular electroretinography and static perimetry in eyes with retinitis pigmentosa.Methods:Eighty-eight eyes of 88 retinitis pigmentosa patients were analyzed. The relationships between the focal macular electroretinography components and the mean deviations (MDs) of the Humphrey Field Analyzer 10-2 were determined. Spectral-domain optical coherence tomography was used to determine the integrity of the ellipsoid zone (EZ) and the interdigitation zone.Results:Forward-backward stepwise regression analyses showed that the amplitudes (r = 0.45, P < 0.01) and implicit times (r = -0.29, P < 0.01) of the b-waves were significantly correlated with the MDs. Some of the eyes had reduced b-wave amplitudes (<1.0 µV) and disrupted interdigitation zone, despite having a better MD (≥ -10.0 dB) and intact EZ. Subgroup analyses of eyes with better MD (≥ -10.0 dB) showed that the EZ width was correlated with the MDs but not with the b-wave amplitude. The thickness of the EZ-retinal pigment epithelium as an alternative indicator of interdigitation zone was correlated with the b-wave amplitude (r = 0.32, P = 0.04) but not with the MDs (r = -0.10, P = 0.53).Conclusion:The fact that the focal macular electroretinography amplitudes are reduced before the shortening of the EZ in the early stage of retinitis pigmentosa indicates that the focal macular electroretinography amplitudes are an earlier indicator of macular dysfunction than the Humphrey Field Analyzer 10-2 findings.

    DOI: 10.1097/IAE.0000000000003589

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  13. BEST1遺伝子関連網膜症に伴う脈絡膜新生血管に関する臨床所見

    宮城 麻衣, 上野 真治, 武内 潤, 小柳 俊人, 小南 太郎, 溝渕 圭, 林 孝彰, 伊藤 逸毅, 寺崎 浩子, 西口 康二

    眼科臨床紀要   Vol. 15 ( 1 ) page: 70 - 70   2022.1

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  14. 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., 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   Vol. 11 ( 1 )   2021.12

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    Language:Japanese   Publisher: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

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

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

    Retina (Philadelphia, Pa.)   Vol. 41 ( 5 ) page: 921 - 930   2021.5

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    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.

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  16. Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants. Reviewed

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

    Japanese journal of ophthalmology   Vol. 64 ( 5 ) page: 485 - 496   2020.9

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    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.

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  17. Longitudinal changes of macular curvature in patients with retinitis pigmentosa

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

    Translational Vision Science and Technology   Vol. 9 ( 10 ) page: 11 - 8   2020.9

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    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.

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  18. RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. International journal

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

    American journal of medical genetics. Part C, Seminars in medical genetics   Vol. 184 ( 3 ) page: 675 - 693   2020.9

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    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.

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  19. Relationship between macular curvature and common causative genes of retinitis pigmentosa in Japanese patients

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

    Investigative Ophthalmology and Visual Science   Vol. 61 ( 10 ) page: 6   2020.8

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    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.

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

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

    Japanese Journal of Ophthalmology   Vol. 64 ( 4 ) page: 378 - 384   2020.7

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    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.

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  21. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association Reviewed

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

    Scientific Reports   Vol. 10 ( 1 ) page: 9531   2020.6

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  22. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder. Reviewed International journal

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

    Translational vision science & technology   Vol. 9 ( 6 ) page: 2 - 2   2020.5

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    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) measurement, 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.

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  23. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. International journal

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

    Scientific reports   Vol. 10 ( 1 ) page: 5497 - 5497   2020.3

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    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.

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  24. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. International journal

    Nakanishi A, Ueno S, Hayashi T, Katagiri S, Ito Y, Kominami T, Fujinami K, Tsunoda K, Iwata T, Terasaki H

    Retina (Philadelphia, Pa.)   Vol. 40 ( 1 ) page: 181 - 186   2020.1

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    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 μm between 500 μm 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/mm). 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.

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

    Sakamoto, T; Kawano, S; Kawasaki, R; Hirakata, A; Yamashita, H; Yamamoto, S; Ishibashi, 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, KH; 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; Kutagawa, Y; Shiraga, F; Morizane, Y; Kimura, S; Ikeda, T; Kida, T; Sato, T; Fukumoto, M; Emi, K; Nakashima, H; Ohji, M; Kakinoki, M; Sawada, O; Takeuchi, S; Tanaka, S; Iida, T; Koizumi, H; Maruko, I; Hasegawa, T; Kogure, A; Iijima, H; Oshiro, T; Tateno, Y; Kikushima, W; Sugiyama, A; Yoneyama, S; Kadonosono, K; Sato, S; Yamane, S

    JAPANESE JOURNAL OF OPHTHALMOLOGY   Vol. 64 ( 1 ) page: 1 - 12   2020.1

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  26. CLINICAL COURSE OF PARANEOPLASTIC RETINOPATHY WITH ANTI-TRPM1 AUTOANTIBODY IN JAPANESE COHORT. International journal

    Ueno S, Inooka D, Nakanishi A, Okado S, Yasuda S, Kominami T, Sayo A, Morimoto T, Kondo M, Katagiri S, Hayashi T, Terasaki H

    Retina (Philadelphia, Pa.)   Vol. 39 ( 12 ) page: 2410 - 2418   2019.12

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    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 best-corrected 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.

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  27. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. Reviewed International journal

    Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, Takaaki Hayashi, Kazuki Kuniyoshi, Ryuichi Ideta, Sachiko Kikuchi, Daiki Kubota, Kazutoshi Yoshitake, Satoshi Katagiri, Hiroyuki Sakuramoto, Taro Kominami, Hiroko Terasaki, Lizhu Yang, Yu Fujinami-Yokokawa, Xiao Liu, Gavin Arno, Nikolas Pontikos, Yozo Miyake, Takeshi Iwata, Kazushige Tsunoda

    Investigative ophthalmology & visual science   Vol. 60 ( 10 ) page: 3432 - 3446   2019.8

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    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.

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  28. Course of loss of photoreceptor function and progressive Müller cell gliosis in rhodopsin P347L transgenic rabbits

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

    Experimental Eye Research   Vol. 184   page: 192 - 200   2019.7

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    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 &lt
    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.

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  29. Steeper macular curvature in eyes with non-highly myopic retinitis pigmentosa Reviewed International journal

    Komori S, Ueno S, Ito Y, Sayo A, Meinert M, Kominami T, Inooka D, Kitagawa M, Nishida K, Takahashi K, Matsui S, Terasaki H

    Investigative Ophthalmology & Visual Science   Vol. 60 ( 8 ) page: 3135 - 3141   2019.7

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    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 ± 9.63 × 10-5 μm-1) was significantly lower than that of the controls (-6.63 ± 5.63 × 10-5 μm-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.

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  30. 自己網膜遊離フラップによる強度近視黄斑円孔治療

    武内 潤, 清水 英幸, 冨田 遼, 小南 太郎, 片岡 恵子, 牛田 宏昭, 伊藤 逸毅, 寺崎 浩子

    眼科臨床紀要   Vol. 12 ( 7 ) page: 584 - 584   2019.7

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  31. Electrically evoked potentials are reduced compared to axon numbers in rhodopsin P347l transgenic rabbits with severe photoreceptor degeneration

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

    Investigative Ophthalmology and Visual Science   Vol. 60 ( 7 ) page: 2543 - 2550   2019.6

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    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 &lt
    0.01). The number of axons in the optic nerve of Tg rabbits was reduced to about 59% of that of WT rabbits (P &lt
    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 &lt
    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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  32. Associations Between Outer Retinal Structures and Focal Macular Electroretinograms in Patients with Retinitis Pigmentosa

    Kominami Taro, Ueno Shinji, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   Vol. 59 ( 9 ) page: .   2018.7

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  33. 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   Vol. 59 ( 9 ) page: .   2018.7

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  34. 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   Vol. 59 ( 8 ) page: 3469 - 3475   2018.7

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    DOI: 10.1167/iovs.18-24635

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  35. 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   Vol. 59 ( 9 ) page: .   2018.7

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  36. 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   Vol. 59 ( 9 ) page: .   2018.7

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

    Kominami Taro, Ueno Shinji, Terasaki Hiroko

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   Vol. 59 ( 9 ) page: .   2018.7

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  38. 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   Vol. 59 ( 9 ) page: .   2018.7

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  39. 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   Vol. 59 ( 9 ) page: .   2018.7

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  40. 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   Vol. 59 ( 9 ) page: .   2018.7

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  41. 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   Vol. 59 ( 1 ) page: 433-438   2018.1

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    DOI: 10.1167/iovs.17-23202

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

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

    Ophthalmic Genetics   Vol. 39 ( 2 ) page: 255 - 262   2018

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

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

    SCIENTIFIC REPORTS   Vol. 7 ( 1 ) page: 16383   2017.11

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    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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  44. 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   Vol. 58 ( 12 ) page: 5518-5525   2017.10

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    DOI: 10.1167/iovs.17-22332

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

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

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   Vol. 58 ( 12 ) page: 5122 - 5128   2017.10

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    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 b-wave 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 &lt; 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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  46. Samd7 is a cell type-specific PRC1 component essential for establishing retinal rod photoreceptor identity

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

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA   Vol. 114 ( 39 ) page: E8264 - E8273   2017.9

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    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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  47. 北海道二海郡八雲町における住民健診でのRETevalの使用経験

    安田 俊介, 上野 真治, 小南 太郎, 伊藤 逸毅, 岩瀬 剛, 冨田 遼, 赤堀 友彦, 吉川 大悟, 吉川 眞男, 工藤 英貴, 寺崎 浩子

    眼科臨床紀要   Vol. 10 ( 7 ) page: 587 - 587   2017.7

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  48. 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   Vol. 58 ( 8 ) page: .   2017.6

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  49. 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   Vol. 58 ( 8 ) page: .   2017.6

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  50. 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   Vol. 58 ( 8 ) page: .   2017.6

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

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

    DOCUMENTA OPHTHALMOLOGICA   Vol. 134 ( 2 ) page: 141 - 147   2017.4

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    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.
    The medical charts of the two siblings were reviewed.
    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 1A degrees 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.
    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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  52. Contributions of Second-and Third-Order Retinal Neurons to Cone Electroretinograms After Loss of Rod Function in Rhodopsin P347L Transgenic Rabbits

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

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE   Vol. 58 ( 3 ) page: 1417 - 1424   2017.3

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

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

    JAPANESE JOURNAL OF OPHTHALMOLOGY   Vol. 61 ( 1 ) page: 92 - 98   2017.1

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    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.
    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.
    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 mu m from the fovea was reduced by 15-30 % as compared with those of the normal eyes.
    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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Books 5

  1. ”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

  2. ”白点状眼底” 眼科疾患ビジュアルラーニング 2020

  3. ”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

  4. “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

  5. “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

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   Vol. 121   2017

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Presentations 14

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

    2021.4.10 

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    Event date: 2021.4

    Language:English   Presentation type:Symposium, workshop panel (nominated)  

  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  2019.6.28 

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    Event date: 2019.6

  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  2018.9.22 

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    Event date: 2018.9

  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 Invited

    小南太郎

    第8回わかもと先進眼科医療研究会(WACAMOTO)  2018.8.3 

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    Event date: 2018.8

    Language:Japanese   Presentation type:Symposium, workshop panel (nominated)  

  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,  2017.11.17 

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    Event date: 2017.11

    Language:Japanese   Presentation type:Oral presentation (general)  

  6. 網膜変性ウサギのERGの起源 Invited

    小南太郎

    2017.11.4 

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    Event date: 2017.11

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  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  2017.4.7 

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    Language:Japanese   Presentation type:Oral presentation (general)  

  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  2016.9.30 

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    Event date: 2016.9 - 2016.10

    Language:Japanese   Presentation type:Oral presentation (general)  

  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  2016.4.9 

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    Event date: 2016.4

    Language:Japanese   Presentation type:Oral presentation (general)  

  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 Invited

    小南太郎

    2015.10.31 

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    Event date: 2015.10

    Language:Japanese   Presentation type:Public lecture, seminar, tutorial, course, or other speech  

  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  2015.8.29 

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    Event date: 2015.8

    Language:Japanese   Presentation type:Oral presentation (general)  

  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  2014.10.4 

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    Event date: 2014.10

    Language:Japanese   Presentation type:Oral presentation (general)  

  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  2011.10.29 

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    Event date: 2011.10

    Language:Japanese   Presentation type:Oral presentation (general)  

  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  2010.11.27 

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    Event date: 2010.11

    Language:Japanese   Presentation type:Oral presentation (general)  

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KAKENHI (Grants-in-Aid for Scientific Research) 2

  1. 網膜色素変性に対する進行評価法の確立

    Grant number:23K15929  2023.4 - 2027.3

    科学研究費助成事業  若手研究

    小南 太郎

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    Authorship:Principal investigator 

    Grant amount:\3380000 ( Direct Cost: \2600000 、 Indirect Cost:\780000 )

    網膜色素変性(RP)は失明に至りうる遺伝性網膜疾患であるが未だ治療法の確立はなされていない。様々な治療法の開発が進められているが、RPは緩徐な進行を示す疾患であるため新規治療法の有効性評価を限られた期間で行うには課題が残っている。
    そこで本研究では短期間でもわずかな差異を検出し新規治療法の有効性を示すために、昨今著しく進歩した人工知能技術を用いてRPの病状進行と強い相関を示す頑健なパラメータの抽出や検査手法の確立を目指す。

  2. 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

    Grant number:19K18876  2019.4 - 2020.3

    日本学術振興会  科学研究費助成事業  若手研究

    小南 太郎

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    Authorship:Principal investigator 

    Grant amount:\3900000 ( Direct Cost: \3000000 、 Indirect Cost:\900000 )

    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。