Kaoru Fujinami

CONTACT INFORMATION

Business address 1: 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan
Phone: (+81) 334110111
Business address 2: Room G4, Wolfson Building, 11-43 Bath St, London EC1V 9EL, UK
Phone: (+44) 2076086850

E-mail address: k.fujinami@ucl.ac.uk


EDUCATION
2013-2016    PhD (Advanced Placement), Retinal Cell Biology Group, Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan (Title: Investigation of inherited retinal disease).
1998-2004    Nagoya University, School of Medicine, Japan
1995-1998    Tokai high school, Nagoya, Japan

 
PROFESSIONAL BACKGROUND
National Institute of Sensory Organs, Tokyo, Japan                              
Laboratory of Visual Physiology/Ophthalmic Genetics, Division of Vision Research
Position: Laboratory head                                                         2017-present
    Develop novel therapeutic approaches for inherited retinal disease
    Clarify genotype-phenotype correlations for inherited retinal disease
    Elucidate ancestor of inherited retinal disease
    Develop novel protocols for electrophysiological assessment
    Promote extended protocols for electrophysiological assessment
    Apply artificial intelligence for clinical ophthalmology
  
Position: Visiting Principal Investigator                                                    2016-2017
    Establish ABCA4 world-wide cohort to investigate the ethnic variability
    Promote data-sharing system for East Asia Inherited Retinal Disease consortium
    Clarify genotype-phenotype correlations for inherited retinal disease

Position: Investigator    2013-2016
    Develop data-sharing system for Japan Eye Genetics consortium (JEGC)
    Establish clinical diagnostic criteria/analysis pipeline for next generation sequencing for JEGC
    Clarify genotype-phenotype correlations for inherited retinal disease

Position: Visiting Researcher                                                          2009-2013
    Characterise macular dystrophy in a Japanese nation-wide cohort.
    Genotype a Japanese cohort with inherited retinal disease
    Clarify genotype-phenotype correlations for inherited retinal disease


University College London, London, UK                                       
Genetics, Institute of Ophthalmology 

Position: Honorary Professor                                      2020-present
    Establish world-wide cohort of inherited retinal disease to investigate the ethnic variability
    Develop Asian cohorts of inherited retinal disease
    Develop deep-phenotyping assessments of inherited retinal disease
    Develop novel therapeutic approaches for inherited retinal disease

Position: Honorary Research Associate (supervised by Prof Michel Michaelides)              2017-present                                   
    Develop novel therapeutic approaches for inherited retinal disease
    Clarify genotype-phenotype correlations for inherited retinal disease
    Establish ABCA4 world-wide cohort to investigate the ethnic variability

Position: Research Associate (supervised by Prof Michel Michaelides)                  2016-2017                                                     
    Establish ABCA4 world-wide cohort in collaboration with ProgStar studies
    Develop data-sharing system under UK-Japan collaboration
    Clarify genotype-phenotype correlations for inherited retinal disease

Position: Research Assistance (supervised by Prof Michel Michaelides, Prof Andrew Webster)      2009-2013
    Phenotype and genotype a cohort with Stargardt disease
    Identify genotype-phenotype association in ABCA4-associated retinal disorder
    Investigate longitudinal natural history of ABCA4-associated retinal disorder
    Promote therapeutic trials for ABCA4-associated retinal disorder
    Validate electrophysiological assessment for the diagnosis/prognosis of Stargardt disease


Moorfields Eye Hospital, London, UK                                        

Inherited Retinal Diseases
Position: Honorary Consultant                                      2018-present
    Development of novel therapies for inherited retinal disease
    Phenotype patients with inherited retinal disease

Inherited Retinal Diseases
Position: Honorary Practice Manager (supervised by Prof Michel Michaelides)                 2017-present
    Phenotype patients with inherited retinal disease

Position: Clinical Research Fellow (supervised by Prof Michel Michaelides, Prof Graham Holder, Prof Andrew Webster, Prof Anthony Moore, and Dr Anthony Robson)                         2009-2013                                                                             
    Phenotype patients with inherited retinal disease


National Hospital Organization Tokyo Medical Center, Tokyo, Japan               
Ophthalmology/Medical Genetics Center

Position: Honorary Consultant Clinical Geneticist                                          2020-
    Division head, division of inherited eye disease

Position: Honorary Consultant Ophthalmic Surgeon                                        2017-
    Division head, division of ophthalmic genetics

Position: Consultant Ophthalmologist                                                   2013-2016
    Faculty, division of vitreoretinal surgery
    Faculty, division of electrophysiology
    Faculty, division of ophthalmic genetics

Position: Resident (supervised by Prof Yozo Miyake and Prof Toru Noda)                  2006-2009                                                
    General ophthalmology training
    General training for electrophysiology


Nagoya First Red Cross Hospital, Aichi, Japan                                      
General Medicine
Position: Resident                                                                  2004-2006
    General medical training

 

PERSONAL DETAILS
Date of Birth: 8th October 1979 (40 years old)
Place of Birth: Michigan, USA
Nationality: Japan


MARITAL STATUS
Married


LICENSE AND CERTIFICATION
2019    Specialist Certificate of Clinical Genetics issued by Japan Society of Human Genetics 
(registry number; 1715)
2016    Doctor of Philosophy, issued by Keio University School of Medicine
2014     Diploma of Ophthalmology issued by Japanese Ophthalmological Society
    (reference number; 017133)
2011     General Medical Certification, UK (temporal reference number; 7212651)
2004     Japanese Medical License Registration (registry number; 444194)


MEMBERSHIPS/BOARD
2018    President, East Asia Inherited Retinal Disease Society
2018    Board, Japan Society for Clinical Electrophysiology and Vision
2016-    Member, ISER (International Society for Eye Research)
2016-    Co-principle Investigator, ProgStar: The International Study of Stargardt Disease
2016-    Chair, East Asia Inherited Retinal Disease Consortium
2015-    Member, The American Society of Human Genetics (ASHG)
2014-    Member, Japanese Society of Human Genetics
2014-    Board, Japan Eye Genetics Consortium
2014-    Board, Asian/Global Eye Genetics Consortium
2009-     Member, ISCEV (International Society for Clinical Electrophysiology of Vision)
2009-    Member, JSCEV (Japanese Society for Clinical Electrophysiology of Vision)
2006-     Member, ARVO (The Association for Research in Vision and Ophthalmology)
2005-    Member, Japanese Ophthalmological Society


JOURNAL BOARD
2020-      EYE GENETICS
2018-      OPHTHALMIC RESEARCH
2018-      Open Access Journal of Ophthalmology


SCIENTIFIC ADVISORY
2019-     Janssen Pharmaceuticals (Consultation): Development of gene therapy for inherited retinal disease
2019-     NightStar (Consultation): Development of gene therapy for inherited retinal disease
2018-     Sanofi Genzyme (Consultation): Development of gene therapy for inherited retinal disease
2018-     Novartis AG (Consultation): Development of gene therapy for inherited retinal disease
2018-     Acucela Inc., (Consultation): Development of gene therapy and compound therapy for inherited retinal disease
2017-      Kubota Pharmaceutical Holdings Co., Ltd, (Consultation): Development of gene therapy and compound therapy for inherited retinal disease
2017-     Astellas Pharma Inc, (Consultation): Development of gene therapy for inherited retinal disease


AWARDS
2018    ASHG 2017 reviewer’s choice
2017    Japanese Retina and Vitreous Society (JRVS), Best Presentation Award
2016    FOUNDATION FIGHTING BLINDNESS Carrier Development Award
2015    Keio University Ushioda Memorial Award.
2014    Keio University Otsuka Fumon/Fusako Fellowship Award.
2013     National Institute for Health Research, Moorfields Biomedical Research Centre Travel Grant
    (ARVO annual meeting 2013)
2012    Eberhart Dodt Memorial Award Best Presentation (ISCEV symposium 2012)
2010    ISCEV symposium travel grant 2010
2007     Eberhart Dodt Memorial Award Excellent Presentation (ISCEV symposium 2007)


FUNDS/GRANTS

Project leader
(15 research projects; Total JPY 200,490,846 (=GBP 1,521,077; 1 JPY=0.007549GBP))

2019-    Contracted clinical trial phase 0
Title: Extended Calibration of Visual Function Evaluation Tests in Patients With Severe Vision Loss 2.
ClinicalTrials.gov Identifier: NCT03281005
Responsible Party: Astellas Pharma Inc. Adopted JPY 32,233,695 (=GBP 243,332)
2018-    National Hospital Organization Network Research Fund
Title: Development of a diagnosis support system in Ophthalmology, utilizing artificial intelligence. (Reference: H30-NHO (Sensory organs)-3 JPY 58,500,000 for application/3 years) (=GBP 441,616).
2018-    Contracted clinical trial phase 0
Title: Extended Calibration of Visual Function Evaluation Tests in Patients With Severe Vision Loss.
ClinicalTrials.gov Identifier: NCT03281005
Responsible Party: Astellas Pharma Inc. JPY 43,335,033 (=GBP 327,136)
2017-    Contracted clinical trial phase 0
Title: Calibration of Visual Function Evaluation Tests in Patients With Severe Vision Loss.
ClinicalTrials.gov Identifier: NCT03281005
Responsible Party: Astellas Pharma Inc. JPY 13,942,179 (= GBP 105,249)
2017-    Grant-in-Aid for Scientists to support international collaborative studies of the Ministry of Education, Culture, Sports, Science and Technology, Japan.
Title: Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder in global eye genetic consortium, including 7 countries from Europe, America, and Asia (grant reference: 16KK01930002; JPY 12,480,000/ 2 years) (= GBP 94,211).
2016-    Grant-in-Aid for Young Scientists (A) of the Ministry of Education, Culture, Sports, Science and Technology, Japan.
Title: Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder, aiming for clinical trial of treatment (grant reference: 16H06269; JPY 24,310,000/ 3 years) (=GBP 183,516).
2016    FOUNDATION FIGHTING BLINDNESS ALAN LATIES CAREER DEVELOPMENT PROGRAM, Clinical/Research Fellowship Award in Inherited Orphan Retinal Degenerations (USD 65,000) (=JPY 7,014,150; =GBP 52,961).
2015    Grants for International Activities in Life Sciences and Medicine, Keio University Medical Science     Fund.
    Title: A collaborative research of genotype-phenotype correlation in a large international cohort with inherited retinal disease: investigation of molecular modelling impact and clinical severity. (JPY 200,000) (=GBP 1,509)
2014    Grants for International Activities in Life Sciences and Medicine, Keio University Medical Science     Fund.
Title: Clinical and Genetic Characteristics of Childhood-onset Stargardt Disease. (JPY 200,000) (=GBP 1,509)
2013    Grant-in-Aid for Young Scientists (B) of the Ministry of Education, Culture, Sports, Science and     Technology, Japan (Ref: 25861662).
    Title: Clinical and molecular genetic investigation of inherited macular disease, aiming for clinical trial of treatment. (JPY 4,300,000/ 2 years)(=GBP 32,460)
2011     Daiwa Anglo-Japanese Foundation, Daiwa foundation small grant (Ref: 8608/9273)
    Title: Support for three reciprocal UK-Japan visits by Ophthalmologists to carry out collaborative research into the clarification of genotype-phenotype correlations of retinal dystrophies leading to publications and conference papers. (GBP 3,000) (= JPY 397,151)
2010     Suzuken Memorial Investigative Research Fund
    Title: Clinical and molecular genetic investigation of inherited macular disease in preparation for     clinical trial (JPY 1, 000,000) (=GBP 7,549).
2010     Mitsukoshi International Research Award
    Title: Clinical and molecular genetic investigation of inherited macular disease in preparation for     clinical trial. (JPY 600,000) (=GBP 4,529).
2010    Fight for sight, DR HANS AND MRS GERTRUDE HIRSCH AWARDS (Ref: 1969U)
    Title: Investigation of the natural history of ABCA4-retinopathy in preparation for treatment trials. (GBP 15,000) (=JPY 1,985,759)
2010    Special Trustees of Moorfield Eye Hospital (Reg: 228064)
    Title: Investigation of the natural history of ABCA4-retinopathy in preparation for treatment trials. (GBP 7,500) (=JPY 992,879)

Co-principal investigator
(7 research projects; Total JPY 1,389,832,223 (=GBP 10,492,734))

2020-    Japan Agency for Medical Research and Development
Title: Establishment of patients registry for juvenile patients with deaf/blindness. (Board, JPY 42,408,000/ 3 years). (=GBP 320,137)
2017-    Butterfield Awards for UK-Japan collaboration in medical research and public health practice
Title: UK-Japan Genomic Research of Inherited Eye Disease (Co-PI: GBP 11,000/ 3 years) (=JPY 1,456,223)
2017-     Health Labour Sciences Research Grant, The Ministry of Health Labour and Welfare.
Title: Establishment of comprehensive clinical management for juvenile patients with deaf/blindness. (Co-PI: JPY 18,000,000/ 3 years) (=GBP 135,882)
2016-    National Hospital Organization Network Research Fund
Title: Development of novel comprehensive gene screening methodology for the molecular diagnosis of retinitis pigmentosa. (Co-PI, JPY 60,000,000/ 3 years) (=GBP 452,940)
2016-   Foundation Fighting Blindness, multicentral study
Title: THE PROGRESSION OF ATROPHY SECONDARY TO STARGARDT DISEASE (PROGSTAR) STUDIES (http://progstar.org/) (Co-PI, USD 4,800,000) (=JPY 517,968,000; GBP 3,911,025).
2015    Approved eyeGENE© Stage 2 Research Studies, National Eye Institute, National Institute of Health
    Title: Molecular Modeling of Pathogenic Mutations in Nucleotide-binding Domains of ABCA4 Transporter Protein.
2011-    Japan Agency for Medical Research and Development
    Title: Acquisition, administration, and provision of biological samples and elucidation of pathology in hereditary retinal and choroidal disorders. (Board, JPY 750,000,000/ 9 years)(=GBP 5,661,750)


CONFERENCE/COURSE CHAIR

2019    1st Symposium of East Asia Inherited Retinal Disease Society
    Hosted by Kaoru Fujinami, Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center and Se Joon Woo, Seoul national university bundang hospital, South Korea.
    Seoul National University Bundang Hospital, Healthcare Innovation Park, Seoul, South Korea,11th October 2019

2018    1st East Asia Inherited Retinal Disease Society seminar and courses
    Hosted by Kaoru Fujinami, Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center
    National Institute of Sensory Organs, Tokyo, Japan, 5th-9th November 2018

2014    International Ophthalmic Genetics Meeting 2014 at Tokyo
Hosted by Kaoru Fujinami, Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center
JP tower, Tokyo, Japan, 1st April 2014

INVITED LECTURES
(Total 60 lectures, including 40 international and 20 domestic lectures)

1.    37th World Ophthalmology Congress 2020
Electrophysiologic and Other Diagnostic Testing in Neuro-ophthalmology
Title: Basics and clinical applications of electrophysiologic testing in neuro-ophthalmology
WOC2020 Virtual®, 26–29 June, Cape town, South Africa, 2020

2.    The 123rd Annual Meeting of the Japanese Ophthalmological Society, Tokyo, Japan
Title: Diseases with night blindness and their managements.
Education seminar 2. Retinal diseases and electrophysiology
Title: Diseases with night blindness and their managements.
Subspecialty Sunday. Recent advancement of Medical Retina
Tokyo International Forum, Web, 27th April – 18th May, Tokyo, Japan, 2020

3.    Lion Eye Institute Seminar series 2020
Title: Clinical and Genetic Characteristics of East Asian Patients with Inherited Retinal Disorders
Harry Perkins Institute, ground floor Seminar room G24, Perth, Australia, 5th February 2020

4.    1st Symposium of East Asia Inherited Retinal Disease Society.
Title: Overview of EAIRDs.
Title: East Asia inherited retinal disease studies: clinical and genetic characteristics of inherited retinal disease in Japanese population.
Seoul National University Bundang Hospital, Healthcare Innovation Park, Seoul, South Korea,11th October 2019.

5.    Seoul National University Bundang Hospital Ophthalmology Conference
Title: Nationwide and international collaborative studies of inherited retinal diseases: East Asia Inherited Retinal Disease Society 
Seoul National University Bundang Hospital Lecture theatre, Seoul, South Korea,10th October 2019.

6.    57th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV)
Title: East Asia Inherited Retinal Disease Studies; Clinical and Genetic Characteristics of Inherited Retinal Disease in Japanese Population.
Session-6 East Asia Inherited Retinal Disease Studies (EAIRDs)
Grand Ambassador Seoul Associated Pullman. 9th October 2019. Seoul, Korea.

7.    Japan Retinitis Pigmentosa Society Yamagata Symposium 2019, Yamagata, Japan
Title: Inherited Retinal Disease: an approach from diagnosis to treatment.
Terusa Yamagata Applause, Yamagata, Japan, 22th September, 2019.

8.    International Society for Genetic Eye Diseases and Retinoblastoma (ISGEDR) 2019 
Title: Clinical and Genetic Characteristics of East Asian Patients with Inherited Retinal Disorders.
Justus-Liebig University, Giessen, Germany, 31st August, 2019

9.    80th Saitama Ophthalmology Congress
Title: Inherited retinal disorder: a comprehensive approach from diagnosis to treatment.
Prince Hotel Kawagoe, Saitama, Japan, 2nd August, 2019

10.    1st Retinal Hemodynamics Seminar
Title: Nationwide and international collaborative studies; retinal genomics research in Japan and East Asian countries.
HOTEL GRANVIA, Kyoto, Japan, 6th July, 2019.

11.    1st UK-Japan retinal hemodynamics symposium,
Title: Nationwide and international collaborative studies; retinal genetics and vascular disorders.
Imperial Hotel/National Institute of Sensory Organs, Tokyo Japan, 1st July, 2019.

12.    14th Japan Retinitis Pigmentosa Society Forum, Tokyo, Japan
Title: Update of treatment for retinitis pigmentosa in the world -a comprehensive approach from diagnosis to treatment-
KFC Hall, Tokyo, Japan, 30th June 2019

13.    JSCEV 67th symposium
Title: Total cohort survey of JEGC studies
Title: Miyake’s disease and allied disorders
Title: Treatment for inherited retinal disorders: emerging therapeutic options
KFC Hall, Tokyo, Japan, 28th -29th June 2019

14.    The 123rd Annual Meeting of the Japanese Ophthalmological Society, Tokyo, Japan
Title: Genetic diagnosis aiming for therapy.
Tokyo International Forum, 18th April, Tokyo, Japan, 2019

15.    Keio University, Department of Ophthalmology, PhD course Spring Seminar 2019
Title: Nationwide and international network survey of inherited retinal disease: diagnosis, origin identification, and treatment
Keio University School of Medicine, Tokyo, Japan, 30th March 2019.

16.    Genomics Research Conference 2019
Title: Nationwide Ophthalmic Genetics Researches in Japan
Moorfields Eye Hospital, London, UK, 28th February 2019.

17.    Japanese Society of Hemorheology and Eas Asia Inherited Retinal Disease Society Joint meeting 2019
Title: Basics and advancement of retinal imaging; molecular and electrophysiological mechanisms of the retina.
Yokokawa Clinic Lecture Theatre, Osaka, Japan, 28th January 2019.

18.    1st East Asia Inherited Retinal Disease Society Seminar and Courses, Tokyo, Japan
Title: Laboratory of Visual Physiology, National Institute of Sensory Organs: history and science
Title: Paediatric Stargardt Disease
National Institute of Sensory Organs, Tokyo Japan, 5th-9th November, 2018.

19.    The 120th Annual Meeting of the Korean Ophthalmology Society, Seoul, Korea.
Clinical electrophysiology symposium
Title: Nationwide and International studies of Inherited Retinal Disorders: Japan Eye Genetics Consortium and East Asia Inherited Retinal Disease
COEX, 2nd, November 2018.

20.    The 72nd Annual Congress of Japan Clinical Ophthalmology, Tokyo, Japan
Mechanism and Diagnosis in Paediatric Hereditary Retinal Disorders
Title: ABCA4-associated retinal disorder
Tokyo International Forum, Tokyo Japan, 11th October 2018.

21.    Germany-Japan Collaborative Research Congress 2018, Tubingen, Germany
Title: Autosomal Dominant Occult Macular Dystrophy (Miyake's disease): 
nationwide and international collaborative studies.
Title: Genetic variability of ABCA4 associated with ethnicity in an international cohort with Stargardt disease: ProgStar and EAStar studies
Institute of Ophthalmic Research, Tubingen University, Tubingen, Germany, 11th September 2018.

22.    France-Japan Collaborative Genomic Research Meeting 2018, Paris, France
Title: Nationwide and international collaborative studies in Inherited retinal disorder
Institute de LA VISION, Paris, France, 25th June 2018.

23.    Japan Retinitis Pigmentosa Society Tokyo Symposium 2018, Tokyo, Japan
Title: Inherited Retinal Disease: a general concept from diagnosis to treatment,
Poppo Machida, 9th June, 2018.

24.    15th Japan Retinitis Pigmentosa Society Osaka Symposium, Osaka, Japan
Title: Inherited Retinal Disease: an approach from diagnosis to treatment,
Osaka Citizen Center, 20th May, 2018.

25.    36th World Ophthalmology Congress 2018
Latest Therapies for Genetic Disorders: Symposia (Retinal Dystrophies, Corneal Dystrophies, Optic Nerve Conditions
Title: Stargardt disease
Fira Gran Via conference center, Barcelona, Spain, 18th June 2018.

26.    Research Organization of Information and Systems, National Institute of Genetics forum 2017, Shizuoka, Japan
Front edge and fusion of genomic medicine and bioinformatics
Title: Nationwide and international collaborative studies of inherited retinal disease: an approach from diagnosis to treatment,
Research Organization of Information and Systems, National Institute of Genetics, Shizuoka, Japan, 28th March, 2018.

27.    National teaching course 2018, Chongqing, China
Hereditary retinal disease and infectious retinal disease
Title: Nationwide and international collaborative studies of inherited retinal disease: an approach from diagnosis to treatment,
Chongqing library, Chongqing, China, 24th March 2018.

28.    Ophthalmic genetics seminar 2018, Henan, China, 6th February 2018.
Title: East Asia Inherited Retinal Disease Consortium
Henan Eye Institute, Henan Provincial People's Hospital, Henan, China, 6th February 2018.

29.    The 56th Annual Meeting of Japanese Retina and Vitreous Society (JRVS)
Title: Genetic Characteristics of Occult Macular Dystrophy in East Asia
Tokyo International Forum, Tokyo, Japan, 1st December 2017

30.    12th Japan Retinitis Pigmentosa Society Forum, Osaka, Japan
Title: Inherited Retinal Disease -an approach from diagnosis to treatment-
Senri Life Science Center, Osaka, Japan, 19th November 2017.

31.    6th Japan-Korea Joint Symposium of Clinical Electrophysiology of Vision, Osaka, Japan
Recent Research on Clinical Electrophysiology of Vision in Our Countries.
Title: Nationwide and International Collaborative Studies of Inherited Retinal Disease; East Asia Inherited Retinal Disease Consortium.
Senri Life Science Center, Osaka, Japan, 18th November 2017.

32.    The 71st Annual Congress of Japanese Clinical Ophthalmology, Tokyo, Japan
Clinical Science of Macula
Title: Macular function -Electrophysiology in Macular Dystrophy-
Tokyo International Forum, Tokyo, Japan, 13th October 2017

33.    The 121st Annual Meeting of the Japanese Ophthalmological Society, Tokyo, Japan
65th Lectures for Ophthalmology Specialist
Title: The importance of nationwide and international collaboration in hereditary orphan diseases.
Tokyo International Forum, Tokyo, Japan, 8th April 2017

34.    32nd APAO Congress, Singapore
ISCEV Symposium: Clinical Electrophysiology of Vision
Title: Electrophysiology in Macular Dystrophy.
Suntec Singapore Convention and Exhibition Centre, Singapore, 3rd March 2017.

35.    The 1st University of Manchester-National Institute of Sensory Organs Collaborative Meeting on Ophthalmic Genetics, Manchester, UK
Title: Data sharing of Global Eye Genetics Consortium in inherited retinal disease
Manchester Royal Eye Hospital, Manchester, UK, 30th January 2017.

36.    The 1st Chili-Japan Collaborative Conference of Ophthalmic Genetics, Santiago, Chile
Title: Data sharing of Japan/Asia Eye Genetics Consortium in inherited retinal disease
Hospital del Salvador, Universidad de Chile, Santiago, Chile, 24th January 2017.

37.    XXII Biennial Meeting of the ISER, the Lunch symposium, Tokyo, Japan
Title: Occult Macular Dystrophy (Miyake's disease); nationwide and international collaborative studies
The Keio Plaza Hotel, Tokyo, Japan, 26th September 2016.

38.    The 5th Global Chinese Ophthalmic Conference, Suzhou, China
Title: MIYAKE’S DISEASE: GENTYPE AND PHOTORECEPTOR MICROSTRUCTURAL PHENOTYPE ASSOCIATIONS IN OCCULT MACULAR DYSTROPHY
Suzhou International Expo Center, Suzhou, China, 9th September 2016.

39.    The 1st China-Japan Collaborative Conference in Ophthalmic Genetics, Beijing, China
Title: Hereditary Macular Dystrophy: a nationwide/international collaborative study
Peking Union Medical College Hospital, Beijing, China, 7th September 2016.

40.    Ophthalmic Genetics Seminar 2016, London, UK
Title: Inherited retinal disease in Japanese population
UCL Institute of Ophthalmology, London, UK, 17th February 2016.

41.    4th Japan-Korea Joint Symposium of Clinical Electrophysiology of Vision, Seoul, South Korea
Title: Japan whole exome project for inherited retinal diseases 2014.
Gangdong Sacred Heart Hospital, Seoul, South Korea, 31st October 2015.

42.    Seminar of the Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MA, USA.
Title: ABCA4-associated retinal disorder -Translational approach aiming for treatment-.
National Eye Institute, National Institute of Health, Bethesda, MA, USA, 7th October 2015

43.    The 9th APVRS Congress (Asia Pacific Vitreo-retina Society), Sydney, Australia, 2015
Title: Comprehensive clinical and electrophysiological assessment crucial for targeted genetic screening and molecular genetic diagnosis.
Hilton Sydney, Australia, 1st August 2015

44.    Asia-Pacific Academy of Ophthalmology (APAO) congress 2015
ISCEV Symposium: Progress in Electrophysiology of Vision
Title: Stargardt disease with foveal sparing phenotype.
Guangzhou Baiyu International Convention Center, Guangzhou, China, 1st April 2015

45.    Asia-ARVO 2015, Tokyo, Japan, 2015 
Mechanism of Retinal Degeneration
Title: Stargardt disease with foveal sparing phenotype.
Pacifico Yokohama, Kanagawa, Japan, 18th February 2015

46.    Genetics Conference, New York, NY 2014
Title: ABCA4-related retinal disorder -up to date-
Edward Howkins Institute, Columbia University, New York, NY, USA, 29th July 2014

47.    The 3rd annual meeting of Japan Perimetric Society, Tokyo, 2014
Title: Macular dystrophy ~Function, Morphology and Pathophysiology~
The Shinagawa grand hall, Tokyo, Japan, 29th June 2014

48.    Medical Retina Meeting at Monza, Italy 2013
Title: Genotype-Phenotype Correlation in Inherited Retinal Disease
San Gerardo Hospital, Monza, Italy, 29th October 2013

49.    Electrophysiology Course at Pavia, Italy 2013
Title: Genotype-Phenotype Correlation in Macular Dystrophy
San Matteo Hospital, Pavia, Italy, 28th October 2013

50.    Ophthalmic Genetics Conference at Ljubljana Slovenia 2013
Title: Phenotype and Genotype of Stargardt Disease -updated-
Ljubljana University Medical Centre, Ljubljana, Slovenia, 25th October 2013

51.    Retina updated meeting at Chongqing China 2013
Title: Genotype-phenotype correlations in Inherited Retinal Disease
Southwest Eye Hospital, Third Military Medical University, Chongqing, China, 10th October 2013

52.    Japanese Society of Clinical Electrophysiology and Vision (JSCEV) 60th symposium
Title: Inherited Retinal Disease and Molecular Genetics Genotype-Phenotype Correlation
Midland Hall, Nagoya, Japan, 6th October 2012

53.    ISCEV symposium at European Association for Vision and Eye Research annual meeting 2011
Title: Progression of Electroretinogram Responses in Stargardt-Fundus Flavimaculatus: A longitudinal study
Creta Maris Convention Center, Hersonissos, Crete, Greece, 8th October 2011

54.    Medical Retina Meeting in Collaboration with the Quinze-Vingts Hospital, Paris, France
Title: A Longitudinal Study of the Electroretinogram Responses in Stargardt-Fundus Flavimaculatus
Quinze-Vingts Hospital, Paris, France, 12th May 2010

 
PEER-REVIEWED PUBLICATIONS 
(*First Author, †corresponding author)
85 peer-reviewed international publications
Total impact factor: 294.41 (Journal of Citation Reports)
26 publications as the first author and 9 publications as the corresponding author.
Research gate RG score: 34.8 (Within top 7.5% of all ResearchGate members)
Google Scholar Citations: 1131 (1007 since 2015), H-index 17 (16 since 2015), 27 (24 since 2015)


1.    Yang L*, Joo K*,…, Woo SJ4†, Sui R†, Fujinami K*†; for the East Asia Inherited Retinal Disease Society study group. Spatial Functional Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.2. Am J Ophthalmol. In press.
2.    Fujinami-Yokokawa Y*, Fujinami K*†, et al. Clinical and Genetic Characteristics of 18 Patients From 13 Japanese Families With CRX-associated Retinal Disorder: Identification of Genotype-phenotype Association. Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z.
3.    Hirose A, Katagiri S, Hayashi T,… , Fujinami K, et al. Progress of Macular Atrophy During 30 Months' Follow-Up in a Patient With Spinocerebellar Ataxia type1 (SCA1). Doc Ophthalmol. In press.
4.    Li S, Fujinami K†, Crewther SG†, et al. Fish oil supplementation and repeated macular haemorrhage without choroidal neovascularization: A case report. SAGE Open Med Case Rep. In press.
5.    Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, et al. Novel Homozygous CLN3 Missense Variant in Isolated Retinal Dystrophy: A Case Report and Electron Microscopic Findings. Mol Genet Genomic Med. In press.
6.    Liu X, Gao L, Wang G, …, Fujinami K, Meng X, Li S. Oguchi Disease Caused by a Homozygous Novel SAG Splicing Alteration Associated With the Multiple Evanescent White Dot Syndrome: A 15-month Follow-Up. Doc Ophthalmol. In press.
7.    Khan, M., Cornelis, S. S., del Pozo-Valero, M,…, Fujinami K, et al. Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics. Genet. Med. In press.
8.    Katagiri S, Hayashi T, Nakamura M,…, Fujinami K, et al. RDH5-related fundus albipunctatus in a large Japanese cohort. Invest Ophthalmol Vis Sci. In press.
9.    Berry V, Georgiou1 M, Fujinami K et al. Inherited Cataracts: Molecular Genetics, Clinical Features, Disease Mechanisms, and Novel Therapeutic Approaches. Br J Ophthalmol in press
10.    Liu X*, Fujinami K*†,…, Fujinami-Yokokawa Y et al. Clinical and genetic characteristics of 15 affected patients from 12 Japanese families with GUCY2D-associated retinal disorder. Transl Vis Sci Technol. In press.
11.    Murphy C,…, Fujinami K, Fujinami-Yokokawa Y et al. Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases. PLoS One. In press
12.    Yang L*, Fujinami K*†,…, Fujinami-Yokokawa Y et al. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Sci Rep. In press
13.    Kuniyoshi K, Hayashi T, Kameya S,…, Fujinami K, et al. Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. Int J Mol Sci. 2020 Feb 16;21(4). pii: E1331. doi: 10.3390/ijms21041331.
14.    Bouzia Z, Georgiou M, Hull S,…, Fujinami K, et al. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. Am J Ophthalmol. 2020 Feb;210:59-70. doi: 10.1016/j.ajo.2019.10.019. Epub 2019 Nov 5.
15.    Nakanishi A, Ueno S, Hayashi T,…, Fujinami K, et al. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. Retina. 2020 Jan;40(1):181-186. doi: 10.1097/IAE.0000000000002363.
16.    Georgiou M, Kane T, Tanna P,…, Fujinami K, et al. Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry. Am J Ophthalmol. 2019 Dec 6. pii: S0002-9394(19)30547-1. doi: 10.1016/j.ajo.2019.11.008. [Epub ahead of print]
17.    Mizobuchi K, Hayashi T, Katagiri S,…, Fujinami K, et al. Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1.
18.    Nakamura N, Tsunoda K, Mizuno Y,…, Fujinami K, et al. Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486.
19.    Maeda-Katahira A, Nakamura N, Hayashi T,…, Fujinami K, et al. Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort. Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019.
20.    Mawatari G, Fujinami K. Liu X, et al. Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2019 Aug 2;6:34. doi: 10.1038/s41439-019-0065-7. eCollection 2019. Erratum in: Hum Genome Var. 2020 Feb 10;7:3. 
21.    Kameya S*, Fujinami K,*, Ueno S et al. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650.
22.    Strauss RW, Kong X, Ho A,…, Fujinami K, et al. Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11. JAMA Ophthalmol. 2019 Aug 1. doi: 10.1001/jamaophthalmol.2019.2885. [Epub ahead of print]
23.    Tsunoda K, Fujinami K. Yoshitake K, et al. Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. Doc Ophthalmol. 2019 Dec;139(3):171-184. doi: 10.1007/s10633-019-09705-7. Epub 2019 Jul 8.
24.    Fujinami-Yokokawa Y*, Pontikos N*, Yang L, ,…, Fujinami K†, et al. Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques. J Ophthalmol. 2019 Apr 9;2019:1691064. doi: 10.1155/2019/1691064. eCollection 2019.
25.    Fujinami K*†. Yang L*, Joo K* et al. Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1. Ophthalmology. 2019 Oct;126(10):1432-1444. doi: 10.1016/j.ophtha.2019.04.032. Epub 2019 Apr 25.
26.    Ervin AM, Strauss RW, Ahmed MI,…, Fujinami K, et al. A Workshop on Measuring the Progression of Atrophy Secondary to Stargardt Disease in the ProgStar Studies: Findings and Lessons Learned. Transl Vis Sci Technol. 2019 Apr 12;8(2):16. doi: 10.1167/tvst.8.2.16. eCollection 2019 Apr.
27.    Tanna P, Georgiou M, Strauss RW,…, Fujinami K, et al. Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease. Transl Vis Sci Technol. 2019 Mar 1;8(2):1. doi: 10.1167/tvst.8.2.1. eCollection 2019 Mar.
28.    Suzuki K, Gocho K, Akeo K,…, Fujinami K, et al. 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. doi: 10.3928/23258160-20190129-03.
29.    Kondo H, Oku K, Katagiri S,…, Fujinami K, et al. Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019.
30.    Mizobuchi K, Katagiri S, Hayashi T,…, Fujinami K, et al. 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. doi: 10.1016/j.ajoc.2018.12.019. eCollection 2019 Mar.
31.    Ueno S, Inooka D, Meinert M,…, Fujinami K, et al. Three cases of acute-onset bilateral photophobia. Jpn J Ophthalmol. 2019 Mar;63(2):172-180. doi: 10.1007/s10384-018-00649-0. Epub 2019 Jan 2.
32.    Fujinami K. Strauss RW, Chiang JP et al. 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. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20.
33.    Akiyama K, Fujinami K. Watanabe K, et al. Macular dysfunction in patients with macula-on rhegmatogenous retinal detachments. Br J Ophthalmol. 2019 Mar;103(3):404-409. doi: 10.1136/bjophthalmol-2018-312153. Epub 2018 Jun 1.
34.    Ando R, Saito W, Kanda A, ,…, Fujinami K, et al. Clinical Features of Japanese Patients With Anti-ホア-enolase Antibody-Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen. Am J Ophthalmol. 2018 Dec;196:181-196. doi: 10.1016/j.ajo.2018.08.044. Epub 2018 Sep 7.
35.    Kumaran N, Rubin GS, Kalitzeos A,…, Fujinami K, et al. 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. doi: 10.1167/iovs.18-23873. Erratum in: Invest Ophthalmol Vis Sci. 2018 Aug;59(10):4326. 
36.    Akiyama K, Fujinami K. Watanabe K, et al. VALIDITY AND EFFICACY OF INTERNAL LIMITING MEMBRANE PEELING DURING INITIAL VITRECTOMY FOR RHEGMATOGENOUS RETINAL DETACHMENT: VISUAL OUTCOMES IN MACULA-SPARING CASES. Retin Cases Brief Rep. 2018 Jun 25. doi: 10.1097/ICB.0000000000000758. [Epub ahead of print]
37.    Thompson DA, Fujinami K, Perlman I, et al. ISCEV extended protocol for the dark-adapted red flash ERG. Doc Ophthalmol. 2018 Jun;136(3):191-197. doi: 10.1007/s10633-018-9644-z. Epub 2018 Jun 22.
38.    Kong X*, Fujinami K*, Strauss RW* et al. Visual Acuity Change Over 24 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. doi: 10.1001/jamaophthalmol.2018.2198.
39.    Schönbach EM, Strauss RW, Kong X,…, Fujinami K, et al. Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12. Am J Ophthalmol. 2018 Sep;193:54-61. doi: 10.1016/j.ajo.2018.06.003. Epub 2018 Jun 8.
40.    Mahroo OA*, Fujinami K*, Moore AT et al. Retinal findings in a patient with mutations in ABCC6 and ABCA4. Eye (Lond). 2018 Sep;32(9):1542-1543. doi: 10.1038/s41433-018-0106-3. Epub 2018 May 16. No abstract available. 
41.    Khan KN, Kasilian M, Mahroo OAR, ,…, Fujinami K, et al. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. Ophthalmology. 2018 May;125(5):735-746. doi: 10.1016/j.ophtha.2017.11.020. Epub 2018 Jan 6.
42.    Kominami A, Ueno S, Kominami T, ,…, Fujinami K, et al. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet. 2018 Apr;39(2):255-262. doi: 10.1080/13816810.2017.1408846. Epub 2017 Dec 8.
43.    Fiorentino A, Fujinami K, Arno G,  et al. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17.
44.    Kong X, West SK, Strauss RW,…, Fujinami K, et al. Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4. Ophthalmol Retina. 2017 Nov - Dec;1(6):514-523. doi: 10.1016/j.oret.2017.02.008. Epub 2017 Apr 28.
45.    Schönbach EM, Ibrahim MA, Strauss RW,…, Fujinami K, et al. Fixation Location and Stability Using the MP-1 Microperimeter in Stargardt Disease: ProgStar Report No. 3. Ophthalmol Retina. 2017 Jan - Feb;1(1):68-76. doi: 10.1016/j.oret.2016.08.009. Epub 2016 Oct 31.
46.    Kato Y, Hanazono G, Fujinami K, et al. Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6020-6029. doi: 10.1167/iovs.17-21969.
47.    Sasaki M, Kato Y, Fujinami K, et al. Advanced quantitative analysis of the sub-retinal pigment epithelial space in recurrent neovascular age-related macular degeneration. PLoS One. 2017 Nov 2;12(11):e0186955. doi: 10.1371/journal.pone.0186955. eCollection 2017.
48.    Strauss RW, Muñoz B, Ho A,…, Fujinami K, et al. Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9). JAMA Ophthalmol. 2017 Nov 1;135(11):1232-1241. doi: 10.1001/jamaophthalmol.2017.4152.
49.    Kong X, Strauss RW, Cideciyan AV,…, Fujinami K, et al. Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6. Ophthalmology. 2017 Nov;124(11):1640-1651. doi: 10.1016/j.ophtha.2017.04.026. Epub 2017 May 23.
50.    Strauss RW, Muñoz B, Ho A,…, Fujinami K, et al. Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5. JAMA Ophthalmol. 2017 Jul 1;135(7):687-695. doi: 10.1001/jamaophthalmol.2017.1121.
51.    Schönbach EM, Wolfson Y, Strauss RW,…, Fujinami K, et al. Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 7. JAMA Ophthalmol. 2017 Jul 1;135(7):696-703. doi: 10.1001/jamaophthalmol.2017.1162.
52.    Tanna P, Strauss RW, Fujinami K, et al. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017 Jan;101(1):25-30. doi: 10.1136/bjophthalmol-2016-308823. Epub 2016 Aug 4. Review.
53.    Fakin A, Robson AG, Chiang JP,…, Fujinami K, et al. The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients. Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):5963-5973. doi: 10.1167/iovs.16-20446.
54.    Fujinami K, Kameya S, Kikuchi S et al. Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670.
55.    Fakin A, Robson AG, Fujinami K, et al. Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4668-78. doi: 10.1167/iovs.16-19829.
56.    Akiyama K, Fujinami K, Watanabe K, et al. Internal Limiting Membrane Peeling to Prevent Post-vitrectomy Epiretinal Membrane Development in Retinal Detachment. Am J Ophthalmol. 2016 Nov;171:1-10. doi: 10.1016/j.ajo.2016.08.015. Epub 2016 Aug 18.
57.    Nakamura N, Fujinami K, Mizuno Y, et al. Evaluation of cone function by a handheld non-mydriatic flicker electroretinogram device. Clin Ophthalmol. 2016 Jun 30;10:1175-85. doi: 10.2147/OPTH.S104721. eCollection 2016.
58.    Kong X, Strauss RW, Michaelides M,…, Fujinami K, et al. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2). Ophthalmology. 2016 Sep;123(9):1887-97. doi: 10.1016/j.ophtha.2016.05.027. Epub 2016 Jul 2.
59.    Hirakata T*, Fujinami K*, Watanabe K et al. One-year outcome of intravitreal aflibercept injection for age-related macular degeneration resistant to ranibizumab: rapid morphologic recovery and subsequent visual improvement. Clin Ophthalmol. 2016 May 26;10:969-77. doi: 10.2147/OPTH.S101596. eCollection 2016.
60.    Kamoshita M, Fujinami K, Toda E, et al. Neuroprotective effect of activated 5'-adenosine monophosphate-activated protein kinase on cone system function during retinal inflammation. BMC Neurosci. 2016 Jun 10;17(1):32. doi: 10.1186/s12868-016-0268-5.
61.    Nakanishi A, Ueno S, Hayashi T,…, Fujinami K, et al. Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort. Am J Ophthalmol. 2016 Aug;168:86-94. doi: 10.1016/j.ajo.2016.04.023. Epub 2016 May 7.
62.    Strauss RW, Ho A, Muñoz B,…, Fujinami K, et al. The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. Ophthalmology. 2016 Apr;123(4):817-28. doi: 10.1016/j.ophtha.2015.12.009. Epub 2016 Jan 16.
63.    Mizuno M*, Fujinami K*, Watanabe K et al. Macular Hole Associated with Vogt-Koyanagi-Harada Disease at the Acute Uveitic Stage. Case Rep Ophthalmol. 2015 Sep 15;6(3):328-32. doi: 10.1159/000440679. eCollection 2015 Sep-Dec.
64.    Kato Y, Tsunoda K, Fujinami K, et al. Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2162-72. doi: 10.1167/iovs.14-16198.
65.    Fujinami K, Zernant J, Chana RK et al. Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology. 2015 Feb;122(2):326-34. doi: 10.1016/j.ophtha.2014.08.012. Epub 2014 Oct 12.
66.    Nishikawa Y*, Fujinami K*, Watanabe K et al. Clinical course of focal choroidal excavation in Vogt-Koyanagi-Harada disease. Clin Ophthalmol. 2014 Dec 4;8:2461-5. doi: 10.2147/OPTH.S75558. eCollection 2014.
67.    Singh R, Fujinami K, Moore AT, et al. Branch retinal artery occlusion secondary to prepapillary arterial loop. Retin Cases Brief Rep. 2014 Spring;8(2):124-6. doi: 10.1097/ICB.0000000000000020.
68.    Tanaka H*, Fujinami K*, Watanabe K et al. Haptic breakage after transscleral fixation of a single-piece acrylic intraocular lens. Case Rep Ophthalmol. 2014 Jul 12;5(2):212-6. doi: 10.1159/000365350. eCollection 2014 May.
69.    Yamazaki R, Tsunoda K, Fujinami K,  et al. Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis. Ophthalmic Surg Lasers Imaging Retina. 2014 May-Jun;45(3):259-61. doi: 10.3928/23258160-20140425-01. Epub 2014 Apr 29.
70.    Singh R, Fujinami K†, Chen LL,  et al. Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. Acta Ophthalmol. 2014 Jun;92(4):e331-2. doi: 10.1111/aos.12280. Epub 2014 Jan 16. No abstract available. 
71.    Fujinami K, Singh R, Carroll J et al. Fine central macular dots associated with childhood-onset Stargardt Disease. Acta Ophthalmol. 2014 Mar;92(2):e157-9. doi: 10.1111/aos.12259. Epub 2013 Sep 11. No abstract available. 
72.    Fujinami K, Lois N, Mukherjee R et al. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Invest Ophthalmol Vis Sci. 2013 Dec 17;54(13):8181-90. doi: 10.1167/iovs.13-12104.
73.    Fujinami K, Zernant J, Chana RK et al. ABCA4 gene screening by next-generation sequencing in a British cohort. Invest Ophthalmol Vis Sci. 2013 Oct 11;54(10):6662-74. doi: 10.1167/iovs.13-12570.
74.    Fujinami K, Sergouniotis PI, Davidson AE et al. Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. Am J Ophthalmol. 2013 Sep;156(3):487-501.e1. doi: 10.1016/j.ajo.2013.05.003.
75.    Fujinami K, Tsunoda K, Nakamura N et al. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. Mol Vis. 2013 Jul 20;19:1580-90. Print 2013.
76.    Fujinami K, Sergouniotis PI, Davidson AE et al. The clinical effect of homozygous ABCA4 alleles in 18 patients. Ophthalmology. 2013 Nov;120(11):2324-31. doi: 10.1016/j.ophtha.2013.04.016. Epub 2013 Jun 12.
77.    Fujinami K, Lois N, Davidson AE et al. A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. Am J Ophthalmol. 2013 Jun;155(6):1075-1088.e13. doi: 10.1016/j.ajo.2013.01.018. Epub 2013 Mar 15.
78.    Tsunoda K, Usui T, Hatase T, ,…, Fujinami K, et al. Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene. Retina. 2012 Jun;32(6):1135-47. doi: 10.1097/IAE.0b013e318232c32e.
79.    Fujinami K, Tsunoda K, Nakamura M et al. Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene. Arch Ophthalmol. 2011 Oct;129(10):1375-6. doi: 10.1001/archophthalmol.2011.300. No abstract available. 
80.    Chai Y, Yamazaki H, Fujinami K,  et al. Case of acute zonal occult outer retinopathy with abnormal pattern visual evoked potentials. Clin Ophthalmol. 2011;5:1235-41. doi: 10.2147/OPTH.S23194. Epub 2011 Sep 6.
81.    Tsunoda K, Fujinami K, Miyake Y.,  et al. Selective abnormality of cone outer segment tip line in acute zonal occult outer retinopathy as observed by spectral-domain optical coherence tomography. Arch Ophthalmol. 2011 Aug;129(8):1099-101. doi: 10.1001/archophthalmol.2011.217. No abstract available. 
82.    Fujinami K, Tsunoda K, Hanazono G et al. Fundus autofluorescence in autosomal dominant occult macular dystrophy. Arch Ophthalmol. 2011 May;129(5):597-602. doi: 10.1001/archophthalmol.2011.96.
83.    Fujinami K, Akahori M, Fukui M et al. Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene. Acta Ophthalmol. 2011 May;89(3):e297-8. doi: 10.1111/j.1755-3768.2009.01848.x. No abstract available. 
84.    Fujinami K, Yokoi T, Hiraoka M et al. Choroidal neovascularization in a child following laser pointer-induced macular injury. Jpn J Ophthalmol. 2010 Nov;54(6):631-3. doi: 10.1007/s10384-010-0876-z. Epub 2010 Dec 30. No abstract available. 
85.    Terauchi N, Fujinami K, Shinoda K,  et al. Transient macular dysfunction determined by focal macular electroretinogram. Br J Ophthalmol. 2007 Dec;91(12):1709-10. No abstract available.
 
TEXTBOOK/BOOK CHAPTER

1.    Liu X, Fujinami (Yokokawa) Y, Yang L, Arno G, Fujinami K†; East Asia Inherited Retinal Disease Consortium (EAIRDc). Stargardt disease in Asian population. Advances in Vision Research, Volume II, 2019. 279-295.

2.    Georgiou M, Fujinami K, Michaelides M. Retinal Imaging in Inherited Retinal Diseases. Annals of Eye Science. In press.

3.    Fujinami K†, Fujinami-Yokokawa Y, Yang L, Liu X, Arno G, Pontikos N; East Asia Inherited Retinal Disease Society (EAIRDs) Study Group. Stargardt disease. Inherited retinal disease, In Press.
 

JAPANESE PUBLICATIONS (Total 21 articles)
<Peer reviewed>
1.     中村 奈津子, 角田 和繁, 藤波 芳, 篠田 啓, 富田 香, 畑瀬 哲尚, 臼井 知聡, 赤堀 正和, 岩田 岳, 三宅 養三. 10年以上の長期観察を行った杆体反応の増強を伴う錐体ジストロフィの4例. 日眼会誌. 117 (8): 629-640, 2013.
<Non-peer reviewed>
1.    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.
2.    藤波 芳.,他、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.
3.    藤波 芳,他、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.
4.    藤波 芳. ゲノム情報と国内・国際ネットワーク.あたらしい眼科. 34(7):987-993, 2017.
5.    藤波 芳. 第4章 網膜・硝子体疾患 Stargardt病.メジカルビュー社、一目でわかる眼疾患の見分け方 下巻、73-74, 2016.
6.    藤波 芳. 第3章 各論 III 錐体優位の変性 Stargardt病.医学書院、網膜変性疾患診療のすべて (眼科臨床エキスパート)、301-314, 2016.
7.    藤波 芳. 図説「目で見る遺伝医学」シリーズ(No.5)遺伝性網膜疾患の現状と展望.医療. 70(6):282-287, 2016.
8.    石田 晋、小沢洋子、近藤峰生、中澤 徹、平見恭彦、藤波 芳、安川 力、山城健児. 網膜研究・診療の未来予想図.Retina Medicine 4(1): 1 -9 2015.
9.    藤波 芳. 網膜電気生理学の未来予想図.Retina Medicine 4(1): 38 -49 2015.
10.    藤波 芳. 結果の見かた② 局所ERG.眼科ケア17(11):47-56, 2015
11.    藤波 芳. 遺伝性疾患 Stargardt病. 眼科 57(4):575-584, 2015.
12.    藤波 芳. 症状と鑑別診断 羞明・昼盲の鑑別疾患. 眼科 57(4):575-584, 2015.
13.    藤波 芳. 電気生理学的検査、黄斑部局所 ERG. 眼科 56(4):511-521, 2014.
14.    角田和繁、藤波 芳. 【眼と遺伝】黄斑ジストロフィ(三宅病を含めて).眼科 56(5):575-584, 2014.
15.    藤波 芳、中村奈津子.  IV どう読む?/先天性疾患 錐体(杆体)ジストロフィ.新版 どうとる?どう読む?ERG 92-95, 2014.
16.    藤波 芳. IV どう読む?/先天性疾患 Stargardt 病(ABCA4-related retinal disease).新版 どうとる?どう読む?ERG -104-105, 2014.
17.    藤波 芳. 黄斑部遺伝性疾患の臨床診断と遺伝性治療を目標とした分子遺伝学的解析. 医科学応用研究財団研究報告 30:148-156, 2013
18.    角田 和繁、藤波 芳. 【眼底自発蛍光と網膜臨床】 黄斑ジストロフィと自発蛍光. 眼科 55(9):1003-1008, 2013.
19.    角田 和繁、藤波 芳. 黄斑ジストロフィ. 専門医のための眼科診療クオリファイ 14網膜機能検査 A to Z 303-301, 2012
20.    藤波 芳、角田 和繁. 黄斑ジストロフィの遺伝子異常~Genotype-phenotype correlation in macular dystrophy~. 眼科 53(2):239-255, 2011.
21.    藤波 芳. Stargardt病 Stargardt-Fundus Flavimaculatus. あたらしい眼科 28(7):927-936, 2011. 
22.    岩波 将輝、永井 正子、藤波 芳、吉田 真理子、大野 建治.海外論文紹介 論文3 ドライアイによる光学的収差と視機能低下Frontiers in Dry Eye 12(1):21, 2007.
 
MAJOR RESEARCH INTERESTS

1.    Electrophysiology
2.    Ophthalmic Genetics
3.    Vitreoretinal Surgery
4.    Artificial Intelligence

Division for Vision Research, National Institute of Sensory Organs

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UCL Institute of Ophthalmology associated with Moorfields Eye Hospital