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 pipleline 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-assocaited retinal disorder

  • Investigate longitudinal natural history of ABCA4-assocaited retinal disorder

  • Promote therapeutic trials for ABCA4-assocaited 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
41 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

2021-         President, East Asia Inherited Retinal Disease Society

2020-         Board, ISCEV (International Society for Clinical Electrophysiology of Vision)

2019-         ClinGen (Clinical Genome Resource) Retina Gene Curation Expert Panel

2018          Chair, 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

2021-       GENES guest editor of a special issue, titled ‘Ophthalmic Genetics’

2021-       DOCUMENTA OPHTHALMOLOGICA (Editorial board)

2020-       EYE GENETICS (Chief editor)

2018-      OPHTHALMIC RESEARCH (Editorial board)

2018-      Open Access Journal of Ophthalmology (Editorial board)

 

 

AWARDS

2021          SANTEN Trust Fund for Ophthalmic Research

2020          Tokyo Retina League, Young Investigator Award

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)

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

2021-         President, East Asia Inherited Retinal Disease Society

2020-         Board, ISCEV (International Society for Clinical Electrophysiology of Vision)

2019-         ClinGen (Clinical Genome Resource) Retina Gene Curation Expert Panel

2018          Chair, 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

2021-       GENES guest editor of a special issue, titled ‘Ophthalmic Genetics’

2021-       DOCUMENTA OPHTHALMOLOGICA (Editorial board)

2020-       EYE GENETICS (Chief editor)

2018-      OPHTHALMIC RESEARCH (Editorial board)

2018-      Open Access Journal of Ophthalmology (Editorial board)

 

 

AWARDS

2021          SANTEN Trust Fund for Ophthalmic Research

2020          Tokyo Retina League, Young Investigator Award

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>
(17 research projects; Total JPY 329,548,988 (=GBP 2,142,068; 1 JPY=0.006500GBP))

2021-    Contracted clinical trial phase 0
Title: An Observational Study of Japanese Participants With X-linked Retinitis Pigmentosa
ClinicalTrials.gov Identifier: NCT04868916
Responsible Party: Janssen Pharmaceutical K.K. Adopted JPY 134,609,438 (=GBP 874,961)


2020-    Contribute Trust Fund for Ophthalmic Research in Commemoration of Santen Pharmaceutical’s Founder.
Title: Identification of ancestor of Miyake disease with utilizing genomic variation analysis.
JPY 2,000,000 (=GBP 15,098)


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 modeling 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, multi central 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)

CLINICAL TRIALS

 

  1. Clinical Trial of Gene Therapy for Japanese Patient with Inherited Retinal Dystrophy Caused by Biallelic RPE65 Mutations (Clinical trial. Gov: NCT04516369).

Phase 3 trial. Novartis Japan

Approved by Pharmaceuticals and Medical Devices Agency in December 2019.

Approved by Institutional Review Board in January 2020.

Role: professional medical supervisor

 

 

CONFERENCE/COURSE CHAIR

 

2020         2nd 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.

                 Virtual. Tokyo, Japan. 14th November 2020.

 

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 63 lectures, including 40 international and 23 domestic lectures)

1.    Japan Retinitis Pigmentosa Society Niigata Symposium 2021, Niigata, Japan
Title: Inherited Retinal Disease: an approach from diagnosis to treatment.
Niigata City General welfare hall, Virtual, Niigata, Japan, 30th May, 2021.

2.    The 10th annual meeting of Japan Perimetric Society, Tokyo, 2021
Title: Structure and function of inherited retinal disease -pathophysiology to treatment-
Web, 25th April, Tokyo, Japan, 2021

3.    The 124th Annual Meeting of the Japanese Ophthalmological Society, Tokyo, Japan
Title: Gene therapy -current picture-
Osaka International Congress Center, Web, 8th April – 11th April, Osaka, Japan, 2021

4.    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

5.    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

6.    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

7.    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.

8.    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.

9.    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.

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

11.    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.

12.    80th Saitama Ophthalmology Congress
Title: Inherited retinal disorder: a comprehensive approach from diagnosis to treatment.
Prince Hotel Kawagoe, Saitama, Japan, 2nd August, 2019.

13.    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.

14.    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.

15.    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

16.    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.

17.    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.

18.    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.

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

20.    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.

21.    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.

22.    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.

23.    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.

24.    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.

25.    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.

26.    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.

27.    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.

28.    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.

29.    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.

30.    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.

31.    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.

32.    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.

33.    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.

34.    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.

35.    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.

36.    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.

37.    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.

38.    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.

39.    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.

40.    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.

41.    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.

42.    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.

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

44.    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.

45.    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.

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

47.    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.

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

49.    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.

50.    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.

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

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

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

54.    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.

55.    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.

56.    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.

57.    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

TEACHING, TRAINING, AND MENTORING

1. Ophthalmology trainee (2009-2014); academic supervisor

2. Ophthalmology trainee (2010-2015); academic supervisor

3. Ophthalmology trainee (2011-2014); academic supervisor

4. Ophthalmology trainee (2011-2013); academic supervisor

5. Ophthalmology trainee (2012-2015); academic supervisor

6. Ophthalmology trainee (2013-2016); academic supervisor

7. PhD student (2017-2021); primary supervisor

8. PhD student (2018-); primary supervisor

9. PhD student (2018-); co-supervisor

10. MD student (2018-2020); primary supervisor

11. PhD student (2020-); primary supervisor

12. PhD student (2021-); primary supervisor

PEER-REVIEWED PUBLICATIONS 
(*First Author, †corresponding author)
98 publications on PubMed; 29 as first author, 13 as corresponding author.
136 publications on Google Scholar.
Total impact factor (IF): 376.273 (Journal of Citation Reports).
Research gate RG score: 36.95 (Within top 5% of all ResearchGate members)
Google Scholar Citations: 1663 (1463 since 2016), h index 20, i10 index 41 (38 since 2016)

 

  1. Fujinami K*†, Oishi A*; Japan Eye Genetics Consortium. Clinical and genetic characteristics of ten Japanese patients with PROM1-associated retinal disorder: a report of the phenotype spectrum and a literature review in the Japanese population. Am J Med Genet C Semin Med Genet. 2020. In press. IF 7.101

  2. Fujinami K*†, Liu X*; Japan Eye Genetics Consortium. RP2-associated retinal disorder in a Japanese cohort: report of novel variants and a literature review, identifying a genotype-phenotype association. Am J Med Genet C Semin Med Genet. 2020. In press. IF 7.101

  3. Yamada Y*†, Fujinami K*†, Eguchi T, Takefuji H, Mori N. Multisystem Inflammatory Syndrome in Adults after Mild SARS-CoV-2 Infection, Japan. Emerg Infect Dis. 2021 Jun;27(6):1740-1742. IF 6.259.

  4. Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K†; Japan Eye Genetics Study (JEGC) Group. Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. Br J Ophthalmol. 2021 In press. IF 3.611

  5. Liu X,..,Fujinami K†, Shiying Li†; for the East Asia Inherited Retinal Disease Society study group. Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: report 1. Am J Med Genet C Semin Med Genet. 2020. In press. IF 7.101

  6. Georgiou M†,.., Fujinami K,.., Michaelides M. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History. Am J Ophthalmol. In press. IF 4.013

  7. Georgiou M, Fujinami K, …, Michaelides M. KCNV2-associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints - KCNV2 Study Group Report 2. Am J Ophthalmol. In press. IF 4.013.

  8. Georgiou M, Fujinami K, Michaelides M. Inherited retinal diseases: Therapeutics, clinical trials and end points-A review. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. IF 2.832

  9. Schönbach EM, …, Fujinami K, …,Scholl HPN; ProgStar Study Group. The Progression of Stargardt Disease using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15. Am J Ophthalmol. In press. IF 4.013

  10. Ozawa H, …, Fujinami K, ..,Yokogawa N. Ocular findings in Japanese patients with hydroxychloroquine retinopathy developing within 3 years of treatment. Jpn J Ophthalmol. 2021 In press. IF 1.725

  11. Murakami Y, …, Fujinami K, …, Sonoda KH. Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients. Ophthalmol Retina. 2021 Feb 23;S2468-6530(21)00063-4.

  12. Hirakata T, Fujinami K, Saito W, et al. Acute Unilateral Inner Retinal Dysfunction with Photophobia -Importance of Electrodiagnosis-. Jp J Ophthalmol. In press. IF 1.725

  13. 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. IF 4.013

  14. 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. IF 3.998

  15. Li H, Wang G, Liu X, …, Fujinami K†,, Li S. Long-term follow-up of a Chinese patient with KCNV2-retinopath. Ophthalmic Genet. 2020. In press.

  16. Georgiou M, Robson AG, Fujinami K, et al. KCNV2-associated Retinopathy: Genetics, Electrophysiology and Clinical Course – KCNV2 Study Group Report 1. Am J Ophthalmol. 2020. In press.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  21. 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.

  22. 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

  23. 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.

  24. Murphy C,…, Fujinami K, Fujinami-Yokokawa Y et al. Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases. PLoS One. In press

  25. 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

  26. 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.

  27. 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.

  28. 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.

  29. 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]

  30. 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.

  31. 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.

  32. 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.

  33. 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.

  34. 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.

  35. 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]

  36. 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.

  37. 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.

  38. 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.

  39. 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.

  40. 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.

  41. 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.

  42. 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.

  43. 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.

  44. 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.

  45. 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.

  46. 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.

  47. 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.

  48. 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.

  49. 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]

  50. 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.

  51. 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.

  52. 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.

  53. 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.

  54. 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.

  55. 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.

  56. 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.

  57. 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.

  58. 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.

  59. 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.

  60. 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.

  61. 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.

  62. 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.

  63. 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.

  64. 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.

  65. 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.

  66. 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.

  67. 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.

  68. 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.

  69. 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.

  70. 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.

  71. 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.

  72. 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.

  73. 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.

  74. 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.

  75. 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.

  76. 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.

  77. 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.

  78. 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.

  79. 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.

  80. 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.

  81. 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.

  82. 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.

  83. 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.

  84. 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.

  85. 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.

  86. 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.

  87. 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.

  88. 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.

  89. 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.

  90. 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.

  91. 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.

  92. 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.

  93. 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.

  94. 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.

  95. 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.

  96. 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.

  97. 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.

  98. 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. Ann Eye Sci. 2020 Sep;5:25.

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.
 

MAJOR RESEARCH INTERESTS

  1. Electrophysiology

  2. Ophthalmic Genetics

  3. Vitreoretinal Surgery

  4. Artificial Intelligence

 

HOBBIES 

Music, travel, and swimming