Clinical and genetic characterization of inherited cone dysfunction syndrome

• Project/Area Number: 17K11434
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Jikei University School of Medicine
• Principal Investigator: Hayashi Takaaki 東京慈恵会医科大学, 医学部, 准教授 (10297418)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000); Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
• Keywords: 錐体ジストロフィ / 全エクソーム解析 / 遺伝性網膜疾患 / 網膜電図 / 遺伝子変異 / 黄斑萎縮 / 網膜色素変性 / 遺伝子 / 杆体一色覚 / 青錐体一色覚 / 錐体杆体ジストロフィ / 黄斑ジストロフィ / 全エクソン解析 / 次世代シークエンサ / 遺伝学 / 網膜 / 黄斑 / 錐体機能

Outline of Final Research Achievements

Inherited cone dysfunction syndrome such as cone dystrophy leads to progressive loss of visual acuity. Development of new therapies is highly expected for its incurable condition. To date, molecular genetic mechanisms of cone dystrophy have not been elucidated because of a variety of causative gene mutations. In this study, we performed molecular genetic analysis to find out causative gene mutations and identified genotype phenotype correlations in some conditions of cone dystrophy. Our results revealed that disease onset and progressive rates depended on causative gene mutations. In conclusion, we confirmed that our outcomes will bring important suggestions for timing of intervention when novel treatments are available for patients with cone dystrophy.

Academic Significance and Societal Importance of the Research Achievements

本研究結果から、日本人における錐体ジストロフィの原因が多岐にわたることが判明した。具体的には、GUCA1A関連優性遺伝性錐体ジストロフィは比較的若年で発症し進行が早いこと、非進行性の停在性疾患と考えられたRDH5関連眼底白点症は、進行性の黄斑部障害・錐体機能低下が起こること、青錐体一色覚の分子病態は欧米のそれとは異なることなどを明らかにした。本研究成果は、遺伝子依存的・特異的な遺伝子(補充)治療やベータカロテン療法の基盤研究に向け有意義なものになると確信する。

Research Products

• [Journal Article] Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy (2020)
  • Author(s): Kuniyoshi Kazuki、Hayashi Takaaki、Kameya Shuhei、Katagiri Satoshi、Mizobuchi Kei、Tachibana Toshiaki、Kubota Daiki、Sakuramoto Hiroyuki、Tsunoda Kazushige、Fujinami Kaoru、Yoshitake Kazutoshi、Iwata Takeshi、Nakano Tadashi、Kusaka Shunji
  • Journal Title: International Journal of Molecular Sciences Volume: 21 Issue: 4 Pages: 1331-1331
  • DOI: 10.3390/ijms21041331
  • Peer Reviewed / Open Access
• [Journal Article] Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. (2020)
  • Author(s): Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group.
  • Journal Title: Sci Rep. Volume: 10 Issue: 1 Pages: 1-10
  • DOI: 10.1038/s41598-020-62119-3
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. (2020)
  • Author(s): Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T.
  • Journal Title: Investigative Ophthalmology & Visual Science Volume: 61 Issue: 3 Pages: 53-53
  • DOI: 10.1167/iovs.61.3.53
  • Peer Reviewed / Open Access
• [Journal Article] Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy (2020)
  • Author(s): Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y
  • Journal Title: Documenta Ophthalmologica Volume: 140 Issue: 2 Pages: 1140-157
  • DOI: 10.1007/s10633-019-09727-1
  • Peer Reviewed
• [Journal Article] Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy (2020)
  • Author(s): Hayashi Takaaki、Katagiri Satoshi、Mizobuchi Kei、Yoshitake Kazutoshi、Kameya Shuhei、Matsuura Tomokazu、Iwata Takeshi、Nakano Tadashi
  • Journal Title: Ophthalmic Genetics Volume: 41 Issue: 1 Pages: 93-95
  • DOI: 10.1080/13816810.2020.1723119
  • Peer Reviewed
• [Journal Article] Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1 (2020)
  • Author(s): Hayashi Takaaki、Hosono Katsuhiro、Kubo Akiko、Kurata Kentaro、Katagiri Satoshi、Mizobuchi Kei、Kurai Minehiro、Mamiya Norihito、Kondo Mineo、Tachibana Toshiaki、Saitsu Hirotomo、Ogata Tsutomu、Nakano Tadashi、Hotta Yoshihiro
  • Journal Title: American Journal of Medical Genetics Part A Volume: 印刷中 Issue: 6 Pages: 1500-1505
  • DOI: 10.1002/ajmg.a.61575
  • Peer Reviewed
• [Journal Article] High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia. (2019)
  • Author(s): Suzuki K, Gocho K, Akeo K, Kikuchi S, Kubota D, Katagiri S, Fujinami K, Tsunoda K, Iwata T, Yamaki K, Igarashi T, Nakano T, Takahashi H, Hayashi T, Kameya S.
  • Journal Title: Ophthalmic Surg Lasers Imaging Retina. Volume: 50(2) Issue: 2 Pages: 76-85
  • DOI: 10.3928/23258160-20190129-03
  • Peer Reviewed / Open Access
• [Journal Article] X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers (2019)
  • Author(s): Kurata Kentaro、Hosono Katsuhiro、Hayashi Takaaki、Mizobuchi Kei、Katagiri Satoshi、Miyamichi Daisuke、Nishina Sachiko、Sato Miho、Azuma Noriyuki、Nakano Tadashi、Hotta Yoshihiro
  • Journal Title: International Journal of Molecular Sciences Volume: 20 Issue: 6 Pages: 1518-1518
  • DOI: 10.3390/ijms20061518
  • Peer Reviewed / Open Access
• [Journal Article] Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. (2019)
  • Author(s): Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T.
  • Journal Title: Doc Ophthalmol. Volume: 138(3) Issue: 3 Pages: 229-239
  • DOI: 10.1007/s10633-019-09679-6
  • Peer Reviewed
• [Journal Article] Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance (2019)
  • Author(s): 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、
  • Journal Title: Investigative Opthalmology & Visual Science Volume: 60 Issue: 10 Pages: 3432-3432
  • DOI: 10.1167/iovs.19-26650
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. (2019)
  • Author(s): Mawatari G, Fujinami K, Liu X, Yang L, Yokokawa YF, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group.
  • Journal Title: Human Genome Varriation Volume: 6 Issue: 1 Pages: 34-34
  • DOI: 10.1038/s41439-019-0065-7
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort (2019)
  • Author(s): Maeda-Kitahira A, Nakamura N, Hayashi T, Katagiri S, Shimizu S, Ohde H, Matsunaga T, Kaga K, Nakano T, Kameya S, Matsuura T, Fujinami K, Iwata T, Tsunoda K
  • Journal Title: Molecular Vision Volume: 25 Pages: 559-573
  • Peer Reviewed / Open Access
• [Journal Article] Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings (2019)
  • Author(s): Nakamura Natsuko、Tsunoda Kazushige、Mizuno Yoshinobu、Usui Tomoaki、Hatase Tetsuhisa、Ueno Shinji、Kuniyoshi Kazuki、Hayashi Takaaki、Katagiri Satoshi、Kondo Mineo、Kameya Shuhei、Yoshitake Kazutoshi、Fujinami Kaoru、Iwata Takeshi、Miyake Yozo
  • Journal Title: Investigative Opthalmology & Visual Science Volume: 60 Issue: 14 Pages: 4691-4691
  • DOI: 10.1167/iovs.19-27486
  • Peer Reviewed / Open Access
• [Journal Article] Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. (2019)
  • Author(s): Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.
  • Journal Title: Sci Rep. Volume: 9 Issue: 1 Pages: 1-9
  • DOI: 10.1038/s41598-019-52660-1
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis (2019)
  • Author(s): Kondo Hiroyuki、Oku Kazuma、Katagiri Satoshi、Hayashi Takaaki、Nakano Tadashi、et al.
  • Journal Title: Human Genome Variation Volume: 6 Issue: 1 Pages: 3-3
  • DOI: 10.1038/s41439-018-0034-6
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X) (2019)
  • Author(s): Mizobuchi Kei、Katagiri Satoshi、Hayashi Takaaki、Yoshitake Kazutoshi、Fujinami Kaoru、Kuniyoshi Kazuki、Mishima Reimi、Tsunoda Kazushige、Iwata Takeshi、Nakano Tadashi
  • Journal Title: American Journal of Ophthalmology Case Reports Volume: 13 Pages: 110-115
  • DOI: 10.1016/j.ajoc.2018.12.019
  • Peer Reviewed / Open Access
• [Journal Article] Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) (2018)
  • Author(s): Katagiri Satoshi、Hayashi Takaaki、Mizobuchi Kei、Yoshitake Kazutoshi、Iwata Takeshi、Nakano Tadashi
  • Journal Title: Ophthalmic Genetics Volume: 39 Issue: 3 Pages: 357-365
  • DOI: 10.1080/13816810.2018.1459737
  • Peer Reviewed
• [Journal Article] Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing (2018)
  • Author(s): Hosono Katsuhiro、Nishina Sachiko、Yokoi Tadashi、Katagiri Satoshi、Saitsu Hirotomo、Kurata Kentaro、Miyamichi Daisuke、Hikoya Akiko、Mizobuchi Kei、Nakano Tadashi、Minoshima Shinsei、Fukami Maki、Kondo Hiroyuki、Sato Miho、Hayashi Takaaki、Azuma Noriyuki、Hotta Yoshihiro
  • Journal Title: Scientific Reports Volume: 8 Issue: 1 Pages: 8279-8279
  • DOI: 10.1038/s41598-018-26524-z
  • Peer Reviewed / Open Access
• [Journal Article] Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy. (2018)
  • Author(s): Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T.
  • Journal Title: Sci Rep Volume: 8 Issue: 1 Pages: 11507-11507
  • DOI: 10.1038/s41598-018-29891-9
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-L?ken syndrome (2018)
  • Author(s): Katagiri Satoshi、Hayashi Takaaki、Yoshitake Kazutoshi、Murai Noriyuki、Matsui Zenichi、Kubo Hiroyuki、Satoh Hiroyuki、Matsufuji Senya、Takamura Tsuyoshi、Yokoo Takashi、Omori Yoshihiro、Furukawa Takahisa、Iwata Takeshi、Nakano Tadashi
  • Journal Title: Scientific Reports Volume: 8 Issue: 1 Pages: 16733-16733
  • DOI: 10.1038/s41598-018-35152-6
  • Peer Reviewed / Open Access
• [Journal Article] 研究倫理と遺伝カウンセリング、社会とのかかわり「網膜変性診療の未来予想図」 (2018)
  • Author(s): 林孝彰
  • Journal Title: あたらしい眼科 Volume: 35 Pages: 437-445
• [Journal Article] Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy (2018)
  • Author(s): Omoto Shusaku、Hayashi Takaaki、Matsuno Hiromasa、Higa Hitomi、Kameya Shuhei、Sengoku Renpei、Takahashi-Fujigasaki Junko、Murayama Shigeo、Iguchi Yasuyuki
  • Journal Title: Journal of the Neurological Sciences Volume: 388 Pages: 84-86
  • DOI: 10.1016/j.jns.2018.03.010
  • Peer Reviewed
• [Journal Article] Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants (2018)
  • Author(s): Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y.
  • Journal Title: Molecular Vision Volume: 24 Pages: 286-296
  • Peer Reviewed / Open Access
• [Journal Article] A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype (2017)
  • Author(s): Katagiri Satoshi、Hayashi Takaaki、Gekka Tamaki、Tsuneoka Hiroshi
  • Journal Title: Ophthalmic Genetics Volume: 38 Issue: 3 Pages: 286-287
  • DOI: 10.1080/13816810.2016.1193880
  • Peer Reviewed
• [Journal Article] In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. (2017)
  • Author(s): Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H.
  • Journal Title: Jpn J Ophthalmol Volume: 61 Issue: 1 Pages: 92-98
  • DOI: 10.1007/s10384-016-0484-7
  • NAID: 210000179265
  • Peer Reviewed / Open Access
• [Journal Article] Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation. (2017)
  • Author(s): Katagiri S, Tanaka S, Yokoi T, Hayashi T, Matsuzaka E, Ueda K, Yoshida-Uemura T, Arakawa A, Nishina S, Kadonosono K, Azuma N.
  • Journal Title: American Journal of Ophthalmology Case Reports Volume: 5 Pages: 76-80
  • DOI: 10.1016/j.ajoc.2016.12.009
  • Peer Reviewed / Open Access
• [Journal Article] Closure of a full-thickness macular hole without vitrectomy in choroideremia (2017)
  • Author(s): Ishikawa K, Gekka T, Hayashi T, Kikuchi S, Kameya S, Tsuneoka H
  • Journal Title: Clin Exp Optom Volume: 100 Issue: 3 Pages: 294-295
  • DOI: 10.1111/cxo.12467
  • Peer Reviewed
• [Journal Article] Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia (2017)
  • Author(s): Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H
  • Journal Title: Doc Ophthalmol Volume: 134 Issue: 2 Pages: 141-147
  • DOI: 10.1007/s10633-017-9577-y
  • Peer Reviewed / Open Access
• [Journal Article] Foveal Hypoplasia in Patients with Stickler Syndrome (2017)
  • Author(s): Matsushita I, Nagata T, Hayashi T, Kimoto K, Kubota T, Ohji M, Kusaka S, Kondo H.
  • Journal Title: Ophthalmology Volume: in press Issue: 6 Pages: 896-902
  • DOI: 10.1016/j.ophtha.2017.01.046
  • Peer Reviewed
• [Journal Article] ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance (2017)
  • Author(s): Katagiri Satoshi、Negishi Yuya、Mizobuchi Kei、Urashima Mitsuyoshi、Nakano Tadashi、Hayashi Takaaki
  • Journal Title: Journal of Ophthalmology Volume: 2017 Pages: 1-7
  • DOI: 10.1155/2017/1079687
  • Peer Reviewed / Open Access
• [Journal Article] Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females (2017)
  • Author(s): Fiorentino Alessia、Fujinami Kaoru、(Hayashi Takaaki)、Iwata Takeshi、Parker Matthew、Webster Andrew R.、Michaelides Michel、Hardcastle Alison J.、for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
  • Journal Title: Human Mutation Volume: 39 Issue: 1 Pages: 80-91
  • DOI: 10.1002/humu.23349
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants (2017)
  • Author(s): Kominami Azusa、Ueno Shinji、Kominami Taro、Nakanishi Ayami、Ito Yasuki、Fujinami Kaoru、Tsunoda Kazushige、Hayashi Takaaki、Kikuchi Sachiko、Kameya Shuhei、Iwata Takeshi、Terasaki Hiroko
  • Journal Title: Ophthalmic Genetics Volume: 39 Issue: 2 Pages: 255-262
  • DOI: 10.1080/13816810.2017.1408846
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Presentation] GNAT1及びABCA4遺伝子変異重複による若年発症錐体杆体ジストロフィが疑われた同胞例 (2019)
  • Author(s): 1.林孝彰、細野克博、片桐聡、溝渕圭、倉田健太郎、中野匡、堀田喜裕
  • Organizer: 第123回日本眼科学会総会
• [Presentation] 日本人X連鎖性網膜色素変性症の遺伝型と臨床像の検討 (2019)
  • Author(s): 2.倉田健太郎、細野克博、溝渕圭、片桐聡、宮道大督、仁科幸子、東範行、中野匡、林孝彰、堀田喜裕
  • Organizer: 第123回日本眼科学会総会
• [Presentation] 全エクソーム解析により診断されたムコリピドーシスIV型の1例 (2019)
  • Author(s): 6.林孝彰、細野克博、久保朗子、倉田健太郎、片桐聡、近藤峰生、中野匡、堀田喜裕
  • Organizer: 第75回日本弱視斜視学会総会・第44回日本小児眼科学会総会
• [Presentation] シンポジウム「網脈絡膜ジストロフィの最前線(JEGCスタディ総括Part 1」白点状眼底、常染色体優性視神経萎縮 (2019)
  • Author(s): 林孝彰
  • Organizer: 第67回日本臨床視覚電気生理学会
  • Invited
• [Presentation] RDH5遺伝子変異を認めた白点状眼底の臨床像 (2019)
  • Author(s): 17.林孝彰、片桐聡、上野真治、國吉一樹、近藤峰生、角田和繁、近藤寛之、岩田岳、松浦知和、中野匡
  • Organizer: 第73回日本臨床眼科学会
• [Presentation] サブスペシャリティサンデー「緑内障・視神経症」「視神経症・診断の決め手」遺伝性視神経疾患の遺伝子解析 (2018)
  • Author(s): 林孝彰
  • Organizer: 第122回日本眼科学会総会
  • Invited
• [Presentation] 日本人Leber先天盲の次世代シークエンサーによる遺伝子変異解析 (2018)
  • Author(s): 細野克博、仁科幸子、林孝彰、倉田健太郎、横井匡、片桐聡、宮道大督、溝渕圭、佐藤美保、蓑島伸生、深見真紀、中野匡、近藤寛之、東範行、堀田喜裕
  • Organizer: 第122回日本眼科学会総会
• [Presentation] Flecked retinal dystrophy with severe retinal dysfunction and biallelic RPE65 variants (2018)
  • Author(s): 林孝彰、細野克博、片桐聡、倉田健太郎、溝渕圭、月花環、吉武和敏、岩田岳、中野匡、堀田喜裕
  • Organizer: 第122回日本眼科学会総会
• [Presentation] Stickler 症候群における傍血管網膜変性部の視機能 (2018)
  • Author(s): 冨士本一志、永田竜朗、松下五佳、林孝彰、近藤寛之
  • Organizer: 第122回日本眼科学会総会
• [Presentation] Mutation analysis of Japanese patients with Leber congenital amaurosis by next generation sequencing (2018)
  • Author(s): Hosono K, Nishina S, Yokoi T, Katagiri S, Kurata K, Miyamichi D, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
  • Organizer: The Association for Research in Vision and Ophthalmology
  • Int'l Joint Research
• [Presentation] GNAT1変異を認めたNougaret型優性遺伝性先天停在性夜盲の1家系 (2018)
  • Author(s): 林孝彰、細野克博、片桐聡、倉田健太郎、中野匡、堀田喜裕
  • Organizer: 第66回日本臨床視覚電気生理学会
• [Presentation] 杆体反応の増強を伴う錐体ジストロフィ症例の長期経過と遺伝学的解析 (2018)
  • Author(s): 久津間朋子、片桐聡、林孝彰、吉武和敏、月花環、神前賢一、溝渕圭、馬場悠花里、寺内稜、松浦知和、岩田岳、中野匡
  • Organizer: 第66回日本臨床視覚電気生理学会
• [Presentation] Occult maculopathyを伴った脊髄小脳変性症（SCA1）の一例 (2018)
  • Author(s): 廣瀬文音、藤波芳、野田徹、片桐聡、林孝彰、松浦知和、岩田岳、角田和繁
  • Organizer: 第66回日本臨床視覚電気生理学会
• [Presentation] CDH3遺伝子変異による先天性の乏毛と黄斑ジストロフィを示した兄妹例 (2018)
  • Author(s): 片桐聡、林孝彰、後町清子、久保田大紀、溝渕圭、松浦知和、石氏陽三、朝比奈昭彦、亀谷修平、中野匡
  • Organizer: 第66回日本臨床視覚電気生理学会
• [Presentation] 抗TRPM1抗体による腫瘍随伴網膜症の臨床経過 (2018)
  • Author(s): 上野真治、井岡大樹、長坂絢美、安田俊介、森本壮、近藤峰生、片桐聡、林孝彰、寺崎浩子
  • Organizer: 第66回日本臨床視覚電気生理学会
• [Presentation] DRAM2関連網膜症の臨床像とその長期経過 (2018)
  • Author(s): 國吉一樹、亀谷修平、林孝彰、櫻本宏之、久保田大紀、片桐聡、藤波芳、角田和繁、岩田岳、日下俊次
  • Organizer: 第66回日本臨床視覚電気生理学会
• [Presentation] シンポジウム「小児網膜変性疾患の病態と診断」診断に苦慮する小児期発症の網膜ジストロフィ (2018)
  • Author(s): 林孝彰
  • Organizer: 第72回日本臨床眼科学会
  • Invited
• [Presentation] Ultra-wide field fundus autofluorescence in Stickler syndrome (2018)
  • Author(s): Fujimoto K, Nagata T, Matsushita I, Hayashi T, Kimoto K, Ohji M, Kusaka S, Kondo H
  • Organizer: American Academy of Ophthalmology
  • Int'l Joint Research
• [Presentation] シンポジウム「どこまでできる？色覚異常に対するサポート」色覚異常と色覚検査 (2018)
  • Author(s): 林孝彰
  • Organizer: 第34回日本視機能看護学会学術総会
  • Invited
• [Presentation] 青錐体1色覚の新規遺伝子変異 (2018)
  • Author(s): 國吉一樹、林 孝彰、岩佐真紀、山下高廣、上山久雄、片桐 聡、櫻本宏之、宇野直樹、七田芳則、日下俊次
  • Organizer: 第57回日本網膜硝子体学会総会
• [Presentation] ERGの現在・未来 網膜変性疾患のERG (2017)
  • Author(s): 林孝彰
  • Organizer: 第121回日本眼科学会総会
  • Invited
• [Presentation] 色覚異常への対応 先天色覚異常の生理学と遺伝 (2017)
  • Author(s): 林孝彰
  • Organizer: 第71回 日本臨床眼科学会
  • Invited
• [Presentation] 遺伝性網膜ジストロフィと電気生理学的特徴」優性遺伝性家族性ドルーゼンの網膜電図所見 (2017)
  • Author(s): 林孝彰
  • Organizer: 第65回日本臨床視覚電気生理学会
  • Invited