61
厚生労働科学研究費補助金（難治性疾患等政策研究事業）
分担研究報告書
「先天性および若年性の視覚聴覚二重障害に対する一体的診療体制に関する研究」
研究分担者 藤波 芳
独立行政法人国立病院機構東京医療センター・
臨床研究センター 視覚研究部視覚生理学研究室・室長
研究要旨
「先天性および若年性の視覚聴覚二重障害の原因となる難病の診療マニュアル」のうち、定義、眼科 身体所見、および眼科治療リハの改編、ならびに新しい治療法の執筆を行った。
研究協力者氏名・所属研究機関名及び所属研究機関における職名
Ａ．研究目的
視覚聴覚二重障害診療マニュアルを作成し、診 療科横断型診療体制構築に寄与する。
Ｂ．研究方法
「先天性および若年性の視覚聴覚二重障害の原 因となる難病の診療マニュアル」の執筆。
(倫理面への配慮) 該当なし
Ｃ．研究結果
「先天性および若年性の視覚聴覚二重障害の原 因となる難病の診療マニュアル」のうち、定 義、眼科身体所見、および眼科治療リハの改 編、ならびに新しい治療法の執筆を行った。
Ｄ．考察
診療科横断的な視覚聴覚二重障害診療体制構築 を目的とした、診療マニュアルの作成は研究の 実効性を高めるものであった。新しい治療法に ついては多岐にわたる内容の中で、本邦におけ る疾患分布、その病態の情報が得られた際に、
再検証を行う事で、よりコホートに見合った内 容を目指す事ができる可能性がある。
Ｅ．結論
「先天性および若年性の視覚聴覚二重障害」の 定義、眼科身体所見、および眼科治療リハにお けるマニュアルが改編された。これが活用され る事で、実行性の高い診療科横断的診療体制の 構築が望まれる。
Ｆ．研究発表 1. 論文発表
Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Ophthalmology. 2018 May;125(5):735-746.
Kumaran N, Rubin GS, Kalitzeos A,
Fujinami K, Bainbridge JWB, Weleber RG, Michaelides M. A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital
Amaurosis. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3330-3339.
Kong X*, Fujinami K*, Strauss RW*, Munoz B, West SK, Cideciyan AV, Michaelides M, Ahmed M, Ervin AM, Schönbach E,
Cheetham JK, Scholl HPN; ProgStar Study Group. Visual Acuity Change Over 24
62 Months and Its Association With Foveal
Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10. JAMA Ophthalmol. 2018 Aug 1;136(8):920-928. *Co-first authors.
Mahroo OA, Fujinami K*, Moore AT, Webster AR. Retinal findings in a patient with mutations in ABCC6 and ABCA4. Eye (Lond). 2018 Sep;32(9):1542-1543. *Co-first authors.
Ando R, Saito W, Kanda A, Kase S, Fujinami K, Sugahara M, Nakamura Y, Eguchi S, Mori S, Noda K, Shinoda K, Ishida S. Clinical Features of Japanese Patients With Anti-α-enolase Antibody- Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen. Am J
Ophthalmol. 2018 Dec;196:181-196.
Mizobuchi K, Katagiri S, Hayashi T, Yoshitake K, Fujinami K, Kuniyoshi K, Mishima R, Tsunoda K, Iwata T, Nakano T.
Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X). Am J Ophthalmol Case Rep. 2018 Dec 19;13:110-115.
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.
High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia. Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):76-85.
Tanna P, Georgiou M, Strauss RW, Ali N, Kumaran N, Kalitzeos A, Fujinami K, Michaelides M. Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.
Transl Vis Sci Technol. 2019 Mar 1;8(2):1.
Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H. Three cases of acute-onset bilateral photophobia. Jpn J Ophthalmol.
2019 Mar;63(2):172-180.
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study
Group. Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. Br J Ophthalmol. 2019
Mar;103(3):390-397.
Akiyama K, Fujinami K, Watanabe K, Noda T, Miyake Y, Tsunoda K. Macular
dysfunction in patients with macula-on rhegmatogenous retinal detachments. Br J Ophthalmol. 2019 Mar;103(3):404-409.
藤波 芳、藤波（横川）優、Lizhu Yang、
Xiao Liu、Gavin Arno. 黄斑ジストロフィの 分子病態. 眼科 60(4):309-321, 2018.
藤波 芳. 学会トピックス 第65回日本臨床 視覚電気生理学会．POC1B関連網膜症にお ける表現型スペクトラム：眼底正常な錐体ジ ストロフィ．日本眼科学会雑誌122(3): 251, 2018.
藤波 芳. 学会トピックス 第56回日本網膜 硝子体学会総会．Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy：East Asia Inherited Retinal Disease Consortium (EAIRDc)．日本眼科学会雑誌122(4): 330- 331, 2018.
2. 学会発表
Ophthalmic genetics seminar 2018, Henan, China, 6th February 2018.
Fujinami K. East Asia Inherited Retinal Disease Consortium.
National teaching course 2018, Chongqing, China, 24th March 2018.
Hereditary retinal disease and infectious retinal disease
Fujinami K. Nationwide and international collaborative studies of inherited retinal disease: an approach from diagnosis to treatment.
36th World Ophthalmology Congress 2018, Barcelona, Spain, 18th June 2018.
Latest Therapies for Genetic Disorders:
Symposia (Retinal Dystrophies, Corneal Dystrophies, Optic Nerve Conditions Fujinami K. Stargardt disease.
The Association for Research in Vision and Ophthalmology (ARVO) 2018 Conference.
63 April 29-May 3, 2018. Honolulu, Hawaii,
USA.
Fujinami K, Yang L, Joo K, Tsunoda K, Kawamura Y, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R.
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular
Dystrophy (Miyake’s disease); EAOMD Report No.1.
Joo K, Yang L, Tsunoda K, Kondo M,
Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Miyake Y, Park KH, Fujinami K, Sui R, Woo SJ.
Multimodal Imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease)
EAOMD Report No. 3.
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K.
Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4.
The 56th Annual Symposium of the International Society for Clinical
Electrophysiology of Vision (ISCEV). June.
18-23, 2018. Reims, France
Fujinami K, Liu X, Joo K, Tsunoda K, Hayashi T, Shinoda K, Mizota A, Kondo M, Kuniyoshi K, Fujinami (Yokokawa) Y, Yang L, Arno G, Kurihara T, Tsubota K, Miyake Y, Li Y, Park KH, Ma DJ, Yu HG, Lei B, Iwata T, Woo SJ, Li S. Clinical and Genetic Characteristics of East Asian Patients with Stargardt disease; EAStar Report No.1.
Liu X, Yang L, Joo K, Tsunoda K, Hayashi T, Shinoda K, Mizota A, Kondo M,
Kuniyoshi K, Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Miyake Y, Li Y, Park KH, Ma DJ, Yu HG, Lei B, Iwata T, Woo SJ, Li S, Fujinami K. Distribution of generalized functional phenotype of East Asian Patients with Stargardt Disease (STGD1): EAStar studies report 2.
Yang L, Joo K, Tsunoda K, Mineo K,
Fujinami (Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Woo SJ, Sui R, Fujinami K. Full- field Electroretinograms Features of East
Asian Patients with Occult Macular Dystrophy (Miyake s disease); EAOMD Report No.2.1.
Fujinami (Yokokawa) Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Kuriahra T, Tsubota K, Zou X, Li H, Park KH, Miyake Y, Iwata T, Woo SJ, Sui R, Fujinami K. Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4.
Akiyama K, Fujinami K, Watanabe K, Noda T, Miyake Y, Tsunoda K. Influence of
internal limiting membrane peeling on macular function in patients treated for macula-on rhegmatogenous retinal detachment
EURETINA Congress, September. 20-23, 2018. Vienna, Austria
Akiyama K, Watanabe K, Fujinami K, Tsunoda K, Noda T. Integrity of Outer Retinal Layers after Internal Limiting Membrane Peeling during Vitrectomy for Macula-on Retinal Detachment
The 120th Annual Meeting of the Korean Ophthalmology Society, Seoul, Korea, 2nd, November, 2018.
Fujinami K. Nationwide and International studies of Inherited Retinal Disorders:
Japan Eye Genetics Consortium and East Asia Inherited Retinal Disease.
1st East Asia Inherited Retinal Disease Society Seminar and Courses, Tokyo, Japan, 5th-9th, November, 2018.
Fujinami K. Laboratory of Visual
Physiology, National Institute of Sensory Organs: history and science.
Fujinami K. Paediatric Stargardt Disease Ｇ．知的財産権の出願・登録状況（予定を含 む。）
1. 特許取得 該当なし
2. 実用新案登録 該当なし
3. その他 該当なし
