1. Fujinami K, Nishiguchi KM, Oishi A, Akiyama M, Ikeda Y; Research Group on

Rare, Intractable Diseases (Ministry of Health, Labour, Welfare of Japan).

Specification of variant interpretation guidelines for inherited retinal

dystrophy in Japan. Jpn J Ophthalmol. 2024 Jul 30. doi:

10.1007/s10384-024-01063-5. Epub ahead of print. PMID: 39078460.

 

1. Jolly JK, Grigg JR, McKendrick AM, Fujinami K, Cideciyan AV, Thompson DA,

Matsumoto C, Asaoka R, Johnson C, Dul MW, Artes PH, Robson AG. ISCEV and IPS

guideline for the full-field stimulus test (FST). Doc Ophthalmol. 2024

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1. Woof W, de Guimarães TAC, Al-Khuzaei S, Varela MD, Sen S, Bagga P, Mendes B,

Shah M, Burke P, Parry D, Lin S, Naik G, Ghoshal B, Liefers B, Fu DJ, Georgiou

M, Nguyen Q, da Silva AS, Liu Y, Fujinami-Yokokawa Y, Kabiri N, Sumodhee D,

Patel P, Furman J, Moghul I, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami

K, Webster AR, Mahroo O, Downes SM, Madhusuhan S, Balaskas K, Michaelides M,

Pontikos N. Quantification of Fundus Autofluorescence Features in a Molecularly

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1. Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM,

Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D,

Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP,

Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ,

Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W,

Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent

AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren

TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S,

Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Towards Uncovering the

Role of Incomplete Penetrance in Maculopathies through Sequencing of 105

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10.3390/biom14030367. PMID: 38540785; PMCID: PMC10967834.

 

1. Sen S, Fabozzi L, Fujinami K, Fujinami-Yokokawa YU, Wright GA, Webster A,

Mahroo O, Robson AG, Georgiou M, Michaelides M. IQCB1 (NPHP5)-Retinopathy:

Clinical and Genetic Characterization and Natural History. Am J Ophthalmol. 2024

Aug;264:205-215. doi: 10.1016/j.ajo.2024.03.009. Epub 2024 Mar 23. PMID:

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1. Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M,

Mahroo OA, Webster AR, Michaelides M. Congenital Stationary Night Blindness

Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122

Patients. Ophthalmol Retina. 2024 Mar 24:S2468-6530(24)00121-0. doi:

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1. Hashem SA, Georgiou M, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de

Guimaraes TAC, Ali N, Mahroo OA, Webster AR, Fujinami K, Michaelides M.

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated

Retinal Dystrophy. Am J Ophthalmol. 2024 Jul;263:1-10. doi:

10.1016/j.ajo.2024.02.005. Epub 2024 Feb 15. PMID: 38364953.

 

1. Laich Y, Georgiou M, Fujinami K, Daich Varela M, Fujinami-Yokokawa Y, Hashem

SA, Cabral de Guimaraes TA, Mahroo OA, Webster AR, Michaelides M. Best

Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features

and Genetic Findings. Ophthalmology. 2024 Jul;131(7):845-854. doi:

10.1016/j.ophtha.2024.01.027. Epub 2024 Jan 24. PMID: 38278445.

 

1. Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y,

Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics,

clinical and imaging features, and therapeutics of macular dystrophies, cone and

cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone

dysfunction syndromes. Prog Retin Eye Res. 2024 May;100:101244. doi:

10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24. PMID: 38278208.

 

1. Fujinami-Yokokawa Y, Joo K, Liu X, Tsunoda K, Kondo M, Ahn SJ, Robson AG,

Naka I, Ohashi J, Li H, Yang L, Arno G, Pontikos N, Park KH, Michaelides M,

Tachimori H, Miyata H, Sui R, Woo SJ, Fujinami K§; East Asia Inherited Retinal

Disease Society Study Group*. Distinct Clinical Effects of Two RP1L1 Hotspots in

East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report

4. Invest Ophthalmol Vis Sci. 2024 Jan 2;65(1):41. doi: 10.1167/iovs.65.1.41.

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1. Wong WM, Tham YC, Simunovic MP, Chen FK, Luu CD, Chen H, Jin ZB, Shen RJ, Li

S, Sui R, Zhao C, Yang L, Bhende M, Raman R, Sen P, Ghosh A, Poornachandra B,

Sasongko MB, Arianti A, Chia V, Mangunsong CO, Manurung F, Fujinami K, Ikeda H,

Woo SJ, Kim SJ, Mohd Khialdin S, Othman O, Bastion MC, Kamalden AT, Lott PWP,

Fong K, Shunmugam M, Lim A, Thapa R, Pradhan E, Rajkarnikar SP, Adhikari S,

Ibañez BMBI, Koh A, Chan CMM, Fenner BJ, Tan TE, Laude A, Ngo WK, Holder GE, Su

X, Chen TC, Wang NK, Kang EY, Huang CH, Surawatsatien N, Pisuchpen P, Sujirakul

T, Kumaramanickavel G, Singh M, Leroy B, Michaelides M, Cheng CY, Chen LJ, Chan

HW. Rationale and protocol paper for the Asia Pacific Network for inherited eye

diseases. Asia Pac J Ophthalmol (Phila). 2024 Jan-Feb;13(1):100030. doi:

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1. Brar AS, Parameswarappa DC, Takkar B, Narayanan R, Jalali S, Mandal S,

Fujinami K, Padhy SK. Gene Therapy for Inherited Retinal Diseases: From

Laboratory Bench to Patient Bedside and Beyond. Ophthalmol Ther. 2024

Jan;13(1):21-50. doi: 10.1007/s40123-023-00862-2. Epub 2023 Dec 19. PMID:

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1. Wang SW, Igarashi-Yokoi T, Mochida S, Fujinami K, Ohno-Matsui K. PREVALENCE

AND CLINICAL FEATURES OF RADIAL FUNDUS AUTOFLUORESCENCE IN HIGH MYOPIC WOMEN.

Retina. 2024 Mar 1;44(3):446-454. doi: 10.1097/IAE.0000000000003981. PMID:37948743.

 

1. Fujinami K§, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu

JT, Curtiss D, Clary C, Michaelides M. Stargardt macular dystrophy and

therapeutic approaches. Br J Ophthalmol. 2024 Mar 20;108(4):495-505. doi:

10.1136/bjo-2022-323071. PMID: 37940365; PMCID: PMC10958310.

 

1. Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H,

Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K§. Occult Macular

Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical

Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD

Report No. 5. Genes (Basel). 2023 Sep 26;14(10):1869. doi:

10.3390/genes14101869. PMID: 37895218; PMCID: PMC10606510.

 

1. de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F,

Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen

XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B,

Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C,

Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B,

Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M. <i>KCNV2</i>-associated

retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report

3. Br J Ophthalmol. 2024 Jul 23;108(8):1137-1144. doi: 10.1136/bjo-2023-323640.

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1. Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH,

Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH,

Webster AR, Michaelides M. RBP3-Retinopathy-Inherited High Myopia and Retinal

Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. Am J

Ophthalmol. 2024 Feb;258:119-129. doi: 10.1016/j.ajo.2023.09.025. Epub 2023 Oct

7. PMID: 37806543; PMCID: PMC11139644.

 

1. Matsushita I, Izumi H, Ueno S, Hayashi T, Fujinami K, Tsunoda K, Iwata T,

Kiuchi Y, Kondo H. Functional Characteristics of Diverse <i>PAX6</i> Mutations

Associated with Isolated Foveal Hypoplasia. Genes (Basel). 2023 Jul

21;14(7):1483. doi: 10.3390/genes14071483. PMID: 37510387; PMCID: PMC10379490.

 

1. Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y,

Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M. CERKL-

Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.

Ophthalmol Retina. 2023 Oct;7(10):918-931. doi: 10.1016/j.oret.2023.06.007. Epub

2023 Jun 17. PMID: 37331655; PMCID: PMC11108804.

 

1. Nguyen Q, Woof W, Kabiri N, Sen S, Daich Varela M, Cabral De Guimaraes TA,

Shah M, Sumodhee D, Moghul I, Al-Khuzaei S, Liu Y, Hollyhead C, Tailor B, Lobo

L, Veal C, Archer S, Furman J, Arno G, Gomes M, Fujinami K, Madhusudhan S,

Mahroo OA, Webster AR, Balaskas K, Downes SM, Michaelides M, Pontikos N;

Eye2Gene Patient Advisory Group. Can artificial intelligence accelerate the

diagnosis of inherited retinal diseases? Protocol for a data-only retrospective

cohort study (Eye2Gene). BMJ Open. 2023 Mar 20;13(3):e071043. doi:

10.1136/bmjopen-2022-071043. PMID: 36940949; PMCID: PMC10030964.

 

1. Kondo M, Fujinami K, Horiguchi M; Local Organizers of ISCEV in Kyoto 2023.

60th annual symposium of the international society for clinical

electrophysiology of vision (ISCEV 2023 Kyoto). Doc Ophthalmol. 2023

Mar;146(Suppl 1):1-2. doi: 10.1007/s10633-023-09926-x. PMID: 36856890.

 

1. Onyango O, Mureithi M, Kithinji D, Jaoko W, Fujinami K. Challenges and

Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in

Africa, a Literature Review. J Pers Med. 2023 Jan 29;13(2):239. doi:

10.3390/jpm13020239. PMID: 36836473; PMCID: PMC9964248.

 

1. Strauss RW, Ho A, Jha A, Fujinami K, Michaelides M, Cideciyan AV, Audo I,

Birch DG, Sadda S, Ip M, West S, Schönbach EM, Kong X, Scholl HPN; Progstar

Study Group. Progression of Stargardt Disease as Determined by Fundus

Autofluorescence Over a 24-Month Period (ProgStar Report No. 17). Am J

Ophthalmol. 2023 Jun;250:157-170. doi: 10.1016/j.ajo.2023.02.003. Epub 2023 Feb

9. PMID: 36764427.

 

1. Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S,

Ueno S, Tsunoda K, Iwata T, Kondo M. A Japanese boy with Bardet-Biedl syndrome

caused by a novel homozygous variant in the ARL6 gene who was initially

diagnosed with retinitis punctata albescens: A case report. Medicine

(Baltimore). 2022 Dec 16;101(50):e32161. doi: 10.1097/MD.0000000000032161. PMID:

36550847; PMCID: PMC9771268.

 

1. Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi

K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G,

Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S,

Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T,

Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N,

Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Genetic characterization of

1210 Japanese pedigrees with inherited retinal diseases by whole-exome

sequencing. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub

2022 Nov 7. PMID: 36284460.

 

1. Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-

Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides

M. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and

Natural History. Am J Ophthalmol. 2023 Feb;246:107-121. doi:

10.1016/j.ajo.2022.09.002. Epub 2022 Sep 12. PMID: 36099972; PMCID: PMC10555856.

 

1. Berry V*, Fujinami K*, Mochizuki K, Iwata T, Pontikos N, Quinlan RA,

Michaelides M. A recurrent variant in <i>LIM2</i> causes an isolated congenital

sutural/lamellar cataract in a Japanese family. Ophthalmic Genet. 2022

Oct;43(5):622-626. doi: 10.1080/13816810.2022.2090010. Epub 2022 Jun 23. PMID:

35736209; PMCID: PMC9612932.

 

1. Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K,

Shimojo H, Iwata T, Kusaka S. Clinical course of a Japanese girl with Leber

congenital amaurosis associated with a novel nonsense pathogenic variant in

<i>NMNAT1</i>: a case report and mini review. Ophthalmic Genet. 2022

Jun;43(3):400-408. doi: 10.1080/13816810.2021.2023195. Epub 2022 Jan 13. PMID:

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1. Ahn SJ, Yang L, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Nakamura N, Iwata

T, Kim MS, Mun Y, Park JY, Joo K, Park KH, Miyake Y, Sui R, Fujinami K§, Woo SJ§;

East Asia Inherited Retinal Disease Society Study Group. Visual Field

Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake

Disease): EAOMD Report No. 3. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):12.

doi: 10.1167/iovs.63.1.12. PMID: 34994768; PMCID: PMC8762684.

 

1. Yamazawa K, Shimizu K, Ohashi H, Haruna H, Inoue S, Murakami H, Matsunaga T,

Iwata T, Tsunoda K, Fujinami K§. A Japanese boy with double diagnoses of

2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder. Hum Genome

Var. 2021 Dec 17;8(1):46. doi: 10.1038/s41439-021-00178-2. PMID: 34921139;

PMCID: PMC8683409.

 

1. Maile H, Li JO, Gore D, Leucci M, Mulholland P, Hau S, Szabo A, Moghul I,

Balaskas K, Fujinami K, Hysi P, Davidson A, Liskova P, Hardcastle A, Tuft S,

Pontikos N. Machine Learning Algorithms to Detect Subclinical Keratoconus:

Systematic Review. JMIR Med Inform. 2021 Dec 13;9(12):e27363. doi:

10.2196/27363. PMID: 34898463; PMCID: PMC8713097.

 

1. Oishi A*, Fujinami K*, Mawatari G, Naoi N, Ikeda Y, Ueno S, Kuniyoshi K,

Hayashi T, Kondo H, Mizota A, Shinoda K, Kusuhara S, Nakamura M, Iwata T,

Tsujikawa A, Tsunoda K. Genetic and Phenotypic Landscape of

<i>PRPH2</i>-Associated Retinal Dystrophy in Japan. Genes (Basel). 2021 Nov

18;12(11):1817. doi: 10.3390/genes12111817. PMID: 34828423; PMCID: PMC8624169.

 

1. Georgiou M*, Finocchio L*, Fujinami K*, Fujinami-Yokokawa Y, Virgili G, Mahroo

OA, Webster AR, Michaelides M. X-Linked Retinoschisis: Deep Phenotyping and

Genetic Characterization. Ophthalmology. 2022 May;129(5):542-551. doi:

10.1016/j.ophtha.2021.11.019. Epub 2021 Nov 23. PMID: 34822951.

 

1. Akiyama K, Fujinami K, Watanabe K, Matsuki T, Tsunoda K, Noda T. RETINAL

SURFACE WRINKLING AS AN INDICATOR FOR INTERNAL LIMITING MEMBRANE PEELING DURING

VITRECTOMY FOR RETINAL DETACHMENT. Retina. 2021 Aug 1;41(8):1618-1626. doi:

10.1097/IAE.0000000000003094. PMID: 34397965; PMCID: PMC8297538.

 

1. Schönbach EM, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, Cideciyan AV,

Sunness JS, Zrenner E, Sadda SR, Scholl HPN; ProgStar Study Group. Longitudinal

Changes of Fixation Stability and Location Within 24 Months in Stargardt

Disease: ProgStar Report No. 16. Am J Ophthalmol. 2022 Jan;233:78-89. doi:

10.1016/j.ajo.2021.07.013. Epub 2021 Jul 21. PMID: 34298008.

 

1. Ozawa H, Ueno S, Ohno-Tanaka A, Sakai T, Hashiguchi M, Shimizu M, Fujinami

K, Ahn SJ, Kondo M, Browning DJ, Shinoda K, Yokogawa N. Ocular findings in

Japanese patients with hydroxychloroquine retinopathy developing within 3 years

of treatment. Jpn J Ophthalmol. 2021 Jul;65(4):472-481. doi:

10.1007/s10384-021-00841-9. Epub 2021 May 20. PMID: 34014447.

 

37: Schönbach EM, Janeschitz-Kriegl L, Strauss RW, Cattaneo MEGV, Fujinami K,

Birch DG, Cideciyan AV, Sunness JS, Weleber RG, Ip MS, Sadda SR, 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. 2021

Oct;230:123-133. doi: 10.1016/j.ajo.2021.04.015. Epub 2021 May 2. PMID:

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38: Georgiou M, Fujinami K, Michaelides M. Retinal imaging in inherited retinal

diseases. Ann Eye Sci. 2020 Sep;5:25. doi: 10.21037/aes-20-81. Epub 2020 Sep 15.

PMID: 33928237; PMCID: PMC8081382.

 

39: 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 Sep;105(9):1272-1279. doi:

10.1136/bjophthalmol-2020-318544. Epub 2021 Apr 20. PMID: 33879469; PMCID:

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40: 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. doi: 10.3201/eid2706.210728. Epub 2021 Apr 6. PMID:

33821784; PMCID: PMC8153873.

 

41: Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens

AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA,

Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T,

Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-

Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi

ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M.

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural

Endpoints-KCNV2 Study Group Report 2. Am J Ophthalmol. 2021 Oct;230:1-11. doi:

10.1016/j.ajo.2021.03.004. Epub 2021 Mar 15. PMID: 33737031; PMCID: PMC8710866.

 

42: 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. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. PMID: 33686777.

 

43: Murakami Y, Koyanagi Y, Fukushima M, Yoshimura M, Fujiwara K, Akiyama M,

Momozawa Y, Ueno S, Terasaki H, Oishi A, Miyata M, Ikeda H, Tsujikawa A,

Mizobuchi K, Hayashi T, Fujinami K, Tsunoda K, Park JY, Han J, Kim M, Lee CS,

Kim SJ, Park TK, Joo K, Woo SJ, Ikeda Y, Sonoda KH. Genotype and Long-term

Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.

Ophthalmol Retina. 2021 Dec;5(12):1269-1279. doi: 10.1016/j.oret.2021.02.009.

Epub 2021 Feb 23. PMID: 33636399.

 

44: Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y,

Kurihara T, Tsubota K, Fujinami K, Li S. Long-term follow-up of a Chinese

patient with <i>KCNV2</i>-retinopathy. Ophthalmic Genet. 2021 Apr;42(2):144-149.

doi: 10.1080/13816810.2020.1861307. Epub 2020 Dec 29. PMID: 33372566.

 

45: Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De

Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K,

Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo

OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D,

Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO,

Webster AR, Zrenner E, Héon E, Michaelides M. KCNV2-Associated Retinopathy:

Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. Am

J Ophthalmol. 2021 May;225:95-107. doi: 10.1016/j.ajo.2020.11.022. Epub 2020 Dec

11. PMID: 33309813; PMCID: PMC8186730.

 

46: Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J,

Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M;

UK Inherited Retinal Disease Consortium, Genomics England Research Consortium;

De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C,

Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF. New

variants and in silico analyses in GRK1 associated Oguchi disease. Hum Mutat.

2021 Feb;42(2):164-176. doi: 10.1002/humu.24140. Epub 2020 Nov 30. PMID:

33252155; PMCID: PMC7898643.

 

47: Hirakata T, Fujinami K, Saito W, Kanda A, Hirakata A, Ishida S, Murakami A,

Tsunoda K, Miyake Y. Acute unilateral inner retinal dysfunction with

photophobia: importance of electrodiagnosis. Jpn J Ophthalmol. 2021

Jan;65(1):42-53. doi: 10.1007/s10384-020-00780-x. Epub 2020 Nov 12. PMID:

33180210.

 

48: Li SY, Fujinami K, Crewther SG, Long YL, Lie HX, Yin ZQ. Fish oil

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98: Fakin A, Robson AG, Chiang JP, Fujinami K, Moore AT, Michaelides M, Holder

GE, Webster AR. 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.

PMID: 27820952.

 

99: Tanna P, Strauss RW, Fujinami K, Michaelides M. 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. PMID: 27491360; PMCID: PMC5256119.

 

100: Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K,

Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S,

Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H,

Miyake Y, Iwata T, Tsunoda K. 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. PMID: 27623337.

 

101: Fakin A, Robson AG, Fujinami K, Moore AT, Michaelides M, Pei-Wen Chiang J,

E Holder G, Webster AR. 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. PMID: 27583828.

 

102: Akiyama K, Fujinami K, Watanabe K, Tsunoda K, Noda T. 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. PMID: 27544480.

 

103: Nakamura N, Fujinami K, Mizuno Y, Noda T, Tsunoda K. 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. PMID: 27445454;

PMCID: PMC4936817.

 

104: Kong X, Strauss RW, Michaelides M, Cideciyan AV, Sahel JA, Muñoz B, West S,

Scholl HP; ProgStar Study Group. 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. PMID: 27378015.

 

105: Hirakata T, Fujinami K, Watanabe K, Sasaki M, Noda T, Akiyama K. 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. PMID: 27307700; PMCID: PMC4888727.

 

106: Kamoshita M, Fujinami K, Toda E, Tsubota K, Ozawa Y. 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. PMID: 27287531; PMCID: PMC4902963.

 

107: Nakanishi A, Ueno S, Hayashi T, Katagiri S, Kominami T, Ito Y, Gekka T,

Masuda Y, Tsuneoka H, Shinoda K, Hirakata A, Inoue M, Fujinami K, Tsunoda K,

Iwata T, Terasaki H. 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. PMID: 27163236.

 

108: Strauss RW, Ho A, Muñoz B, Cideciyan AV, Sahel JA, Sunness JS, Birch DG,

Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin AM, West S,

Scholl HP; Progression of Stargardt Disease Study Group. 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. PMID:

26786511.

 

109: Mizuno M, Fujinami K, Watanabe K, Akiyama K. 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. PMID: 26483677; PMCID:

PMC4608629.

 

110: Kato Y, Tsunoda K, Fujinami K, Iwata T, Saga M, Oguchi Y. 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. PMID: 25744976.

 

111: Nishikawa Y, Fujinami K, Watanabe K, Noda T, Tsunoda K, Akiyama K. Clinical

course of focal choroidal excavation in Vogt-Koyanagi-Harada disease. Clin

Ophthalmol. 2014 Dec 4;8:2461-5. doi: 10.2147/OPTH.S75558. PMID: 25506207;

PMCID: PMC4259514.

 

112: Singh R, Fujinami K, Moore AT. Branch retinal artery occlusion secondary to

prepapillary arterial loop. Retin Cases Brief Rep. 2014 Spring;8(2):124-6. doi:

10.1097/ICB.0000000000000020. PMID: 25372326.

 

113: Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K,

Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT. 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.

PMID: 25312043; PMCID: PMC4459618.

 

114: Tanaka H, Fujinami K, Watanabe K, Noda T, Akiyama K. 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. PMID: 25126076;

PMCID: PMC4130822.

 

115: Yamazaki R, Tsunoda K, Fujinami K, Noda T, Tsubota K. 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. PMID:

24779613.

 

116: Singh R, Fujinami K, Chen LL, Michaelides M, Moore AT. 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. PMID: 24428930.

 

117: Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM,

Fitzke FW, Bunce C, Moore AT, Webster AR, Michaelides M. 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. PMID: 24265018.

 

118: Nakamura N, Tsunoda K, Fujinami K, Shinoda K, Tomita K, Hatase T, Usui T,

Akahori M, Iwata T, Miyake Y. [Long-term observation over ten years of four

cases of cone dystrophy with supernormal rod electroretinogram]. Nippon Ganka

Gakkai Zasshi. 2013 Aug;117(8):629-40. Japanese. PMID: 24063160.

 

119: Fujinami K, Singh R, Carroll J, Zernant J, Allikmets R, Michaelides M,

Moore AT. 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. PMID: 24020726.

 

120: Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K,

Webster AR, Moore AT, Allikmets R, Michaelides M. 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. PMID: 23982839; PMCID:

PMC3796939.

 

121: Fujinami K, Sergouniotis PI, Davidson AE, Wright G, Chana RK, Tsunoda K,

Tsubota K, Egan CA, Robson AG, Moore AT, Holder GE, Michaelides M, Webster AR.

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. PMID: 23953153.

 

122: Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K,

Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y.

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report

of novel disease-causing variants. Mol Vis. 2013 Jul 20;19:1580-90. PMID:

23885164; PMCID: PMC3718491.

 

123: Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K,

Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. 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. PMID:

23769331.

 

124: Fujinami K, Lois N, Davidson AE, Mackay DS, Hogg CR, Stone EM, Tsunoda K,

Tsubota K, Bunce C, Robson AG, Moore AT, Webster AR, Holder GE, Michaelides M. 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.

PMID: 23499370.

 

125: Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, Shinoda K,

Ohde H, Akahori M, Iwata T, Miyake Y. 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. PMID: 22466457.

 

126: Fujinami K, Tsunoda K, Nakamura M, Oguchi Y, Miyake Y. 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. PMID:

21987685.

 

127: Chai Y, Yamazaki H, Fujinami K, Tsunoda K, Yamamoto S. 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. PMID:

21966193; PMCID: PMC3180490.

 

128: Tsunoda K, Fujinami K, Miyake Y. 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. PMID: 21825201.

 

129: Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y. Fundus

autofluorescence in autosomal dominant occult macular dystrophy. Arch

Ophthalmol. 2011 May;129(5):597-602. doi: 10.1001/archophthalmol.2011.96. PMID:

21555613.

 

130: Fujinami K, Yokoi T, Hiraoka M, Nishina S, Azuma N. 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. PMID: 21191730.

 

131: Fujinami K, Akahori M, Fukui M, Tsunoda K, Iwata T, Miyake Y. 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. PMID: 20163366.

 

132: Terauchi N, Fujinami K, Shinoda K, Tsunoda K, Hanazono G, Miyake Y, Inomata

K. Transient macular dysfunction determined by focal macular electroretinogram.

Br J Ophthalmol. 2007 Dec;91(12):1709-10. doi: 10.1136/bjo.2006.113373. PMID:

18024815; PMCID: PMC2095554.

​

TEXTBOOK/BOOK CHAPTER

1.                  Fujinami-Yokokawa Y, Robson AG, Sergouniotis PI, Fujinaim K*. *Corresponding author. Ocult macular dystrophy. Clinical Ophthalmic Genetics and Genomics.2022:241-245

2.                  Fujinami K*, Fujinami-Yokokawa Y,* Yang L, Liu X, Arno G, Pontikos N; East Asia Inherited Retinal Disease Society(EAIRDs)Study Group. *Co-first authors. Stargardt Macular Dystrophy. Inherited Retinal Disease.2022:151-168

3.                  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.

4.                  Georgiou M, Fujinami K, Michaelides M. Retinal Imaging in Inherited Retinal Diseases. Ann Eye Sci. 2020 Sep;5:25.

5.                  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.

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MAJOR RESEARCH INTERESTS

1. Electrophysiology

2. Ophthalmic Genetics

3. Vitreoretinal Surgery

4. Artificial Intelligence

 

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HOBBIES 

Music, travel, and swimming