Y. Hotta

S. Minoshima, Miho Sato, N. Azuma, 2011, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I.

K. Fujiki, A. Kanai, Y. Hotta, 1999, Japanese journal of ophthalmology.

Ocular Immunology and Inflammation Analysis of herpes virus group (DNA) from

H. Kawano, R. Kawaguchi, A. Kanai, 1996 .

Six Different Mutations of TGFBI (&bgr;ig-h3, Keratoepithelin) Gene Found in Japanese Corneal Dystrophies

K. Fujiki, A. Kanai, T. Kato, 2000, Cornea.

Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I

Tatsuo Yamaguchi, K. Fujiki, A. Kanai, 1999 .

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I.

K. Fujiki, A. Kanai, Y. Hotta, 1999, American journal of ophthalmology.

Magnetic resonance imaging of the medial rectus muscle of patients with consecutive exotropia after medial rectus muscle recession.

H. Isoda, Miho Sato, Akiko Hikoya, 2010, Ophthalmology.

DNA Analysis for Diagnosis of X-Linked Juvenile Retinoschisis When Clinical Examination Is Difficult in a Young Child

Miho Sato, Akiko Hikoya, Y. Hotta, 2005, Japanese Journal of Ophthalmology.

ACUTE RETINAL NECROSIS SYNDROME ASSOCIATED WITH HERPES SIMPLEX KERATITIS

M. Hayakawa, Y. Hotta, H. Sakuma, 1994, Retina.

Case of a Japanese patient with X-linked ocular albinism associated with the GPR143 gene mutation

S. Minoshima, M. Ohtsubo, Miho Sato, 2010, Japanese Journal of Ophthalmology.

Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse.

T. Kato, Y. Hotta, 1989, Investigative ophthalmology & visual science.

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Y. Hayashizaki, H. Kawaji, K. Tsubota, 2020, Scientific Reports.

Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification.

K. Fujiki, A. Kanai, M. Hayakawa, 1989, American journal of ophthalmology.

Oligomerization of Optineurin and Its Oxidative Stress- or E50K Mutation-Driven Covalent Cross-Linking: Possible Relationship with Glaucoma Pathology

S. Minoshima, M. Ohtsubo, Jie Gao, 2014, PloS one.

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

S. Minoshima, M. Ohtsubo, Miho Sato, 2019, Human Genome Variation.

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

S. Minoshima, M. Ohtsubo, Miho Sato, 2019, Human Genome Variation.

Plus/minus screening of rabbit corneal endothelial cDNA library.

K. Fujiki, A. Kanai, Y. Hotta, 1997, Japanese journal of ophthalmology.

Polymorphism of beta-adrenergic receptors and susceptibility to open-angle glaucoma.

K. Tsubota, A. Murakami, N. Fuse, 2006, Molecular vision.

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

R. Asaoka, Makoto Nakamura, Y. Miyake, 2006, Ophthalmology.

Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma.

T. Dryja, Y. Ohnishi, T. Sakai, 1997, Cancer genetics and cytogenetics.

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1

H. Nakanishi, S. Minoshima, M. Ohtsubo, 2010, Journal of Human Genetics.

Three novel mutations of the PAX6 gene in Japanese aniridia patients

S. Minoshima, N. Shimizu, M. Ohtsubo, 2007, Journal of Human Genetics.

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

S. Minoshima, M. Ohtsubo, Miho Sato, 2020, Journal of human genetics.

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

S. Minoshima, H. Saitsu, T. Fukao, 2020, Ophthalmic genetics.

Enhanced S-cone syndrome with subfoveal neovascularization.

Makoto Nakamura, M. Kondo, Y. Miyake, 2002, American journal of ophthalmology.

Retinitis Pigmentosa in Japanese Population

S. Minoshima, Y. Hotta, Katsuhiro Hosono, 2017 .

Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.

H. Yamazaki, Y. Hiratsuka, Y. Hotta, 2020, Auris, nasus, larynx.

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy

M. Kondo, Takaaki Hayashi, T. Nakano, 2019, Documenta Ophthalmologica.

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Shinsei Minoshima, Miho Sato, Tadashi Yokoi, 2012, PloS one.

Clinical features of a Japanese case with Bothnia dystrophy

S. Minoshima, M. Kondo, Akiko Hikoya, 2012, Ophthalmic genetics.

Long-term Follow-up of Two Sisters with Leber's Hereditary Optic Neuropathy

A. Murakami, K. Fujiki, Y. Hotta, 2005, Japanese Journal of Ophthalmology.

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

T. Ogata, K. Kosaki, H. Saitsu, 2021, Journal of Human Genetics.

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

Miho Sato, T. Yokoi, S. Nishina, 2019, Human Genome Variation.

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

Miho Sato, T. Yokoi, S. Nishina, 2019, Human Genome Variation.

Low frequency of oncogenic mutations in the core promoter region of the RB1 gene

T. Dryja, K. Ishizaki, M. Sasaki, 1999, Human mutation.

Missense mutations in the PAX6 gene in aniridia.

M. Yamada, N. Azuma, Y. Hotta, 1998, Investigative ophthalmology & visual science.

ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISK REGION

T. Yokoi, S. Katagiri, S. Nishina, 2017, Retina.

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report

H. Saitsu, M. Katsuno, Masakazu Takayama, 2022, American journal of ophthalmology case reports.

Rhinogenic optic neuropathy caused bilateral loss of light perception

A. Kanai, Y. Hotta, K. Nakayasu, 1998, The British journal of ophthalmology.

A hemizygous A to CC base change of theCHM gene causing choroideremia associated with pinealoma

K. Fujiki, A. Kanai, M. Hayakawa, 1997, Graefe's Archive for Clinical and Experimental Ophthalmology.

REP-1 gene mutations in Japanese patients with choroideremia

A. Murakami, K. Fujiki, A. Kanai, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

Mutation Spectrum in the Rep-1 Gene of Japanese Choroideremia Patients

A. Murakami, K. Fujiki, A. Kanai, 1999 .

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene

K. Fujiki, A. Kanai, M. Hayakawa, 1998, Human Genetics.

Effects of the Gaze Fixation Position on AS-OCT Measurements of the Limbus and Extraocular Muscle Insertion Site Distance.

Miho Sato, Akiko Hikoya, Y. Hotta, 2021, Journal of pediatric ophthalmology and strabismus.

Changes in conjunctival–scleral thickness after strabismus surgery measured with anterior segment optical coherence tomography

Miho Sato, Akiko Hikoya, Y. Hotta, 2018, Japanese Journal of Ophthalmology.

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

K. Higasa, T. Matsuura, K. Yoshitake, 2021, Journal of clinical medicine.

Japanese juvenile retinoschisis is caused by mutations of the

K. Fujiki, A. Kanai, M. Hayakawa, 1998 .

[A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene].

K. Fujiki, A. Kanai, Y. Hotta, 2000, Nippon Ganka Gakkai zasshi.

Characteristics and surgical outcomes of consecutive exotropia of different etiologies

Miho Sato, Akiko Hikoya, Y. Hotta, 2015, Japanese Journal of Ophthalmology.

Ocular Findings of Williams' Syndrome

Y. Hotta, M. Wakita, Y. Inagaki, 1990, Acta paediatrica Scandinavica.

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2

H. Nakanishi, S. Minoshima, S. Iwasaki, 2009, Clinical genetics.

Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

H. Ideta, I. Kimura, N. Shimizu, 2004, Investigative ophthalmology & visual science.

Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes

H. Nakanishi, S. Minoshima, M. Ohtsubo, 2010, Journal of Human Genetics.

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

H. Kurahashi, H. Ogita, M. Kondo, 2018, Scientific Reports.

Visual Function in Retinitis pigmentosa Related to a Codon 15 Rhodopsin Gene Mutation

A. Murakami, K. Fujiki, A. Kanai, 1998, Ophthalmic Research.

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

R. Kawaguchi, M. Tamai, K. Fujiki, 1992, Japanese Journal of Human Genetics.

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers

Miho Sato, Takaaki Hayashi, T. Nakano, 2019, International journal of molecular sciences.

Association between glaucoma and gene polymorphism of endothelin type A receptor.

H. Ideta, I. Kimura, A. Murakami, 2005, Molecular vision.

Title Genotype determination of the OPN 1 LW / OPN 1 MW genes : novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

H. Kurahashi, H. Ogita, M. Kondo, 2019 .

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

H. Kurahashi, H. Ogita, M. Kondo, 2018, Scientific Reports.

Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy

S. Minoshima, Makoto Nakamura, S. Kachi, 2016, Human Genome Variation.

Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children

Miho Sato, Akiko Hikoya, Y. Hotta, 2020, Japanese Journal of Ophthalmology.

Evaluation of Surgical Strategy Based on the Intraoperative Superior Oblique Tendon Traction Test

Miho Sato, Akiko Hikoya, Y. Hotta, 2016, PloS one.

SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.

A. Murakami, N. Fuse, T. Fukuchi, 2006, Investigative ophthalmology & visual science.

Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene

S. Kusaka, H. Kondo, E. Uchio, 2021, Translational vision science & technology.

Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber’s hereditary optic neuropathy: comparison with American and British counterparts

Makoto Nakamura, Y. Isashiki, Y. Hotta, 1999 .

Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA.

K. Fujiki, A. Kanai, M. Hayakawa, 1995, Japanese journal of ophthalmology.

Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.

R. Weleber, G. Inana, Y. Hotta, 1989, American journal of human genetics.

Molecular genetics of gyrate atrophy.

N. Katunuma, E. Kominami, G. Inana, 1987, Progress in clinical and biological research.

A Case of Sectorial Benign Flecked Retina

Makoto Nakamura, Miho Sato, Y. Miyake, 2003, Japanese Journal of Ophthalmology.

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.

Y. Miyake, H. Terasaki, Y. Miyake, 2000, Investigative ophthalmology & visual science.

Intraocular pressure at different gaze positions in patients with highly myopic strabismus

Miho Sato, Akiko Hikoya, Y. Hotta, 2022, Japanese Journal of Ophthalmology.

Differential development of cation-chloride cotransporters and Cl− homeostasis contributes to differential GABAergic actions between developing rat visual cortex and dorsal lateral geniculate nucleus

J. Yamada, Kohji Sato, A. Fukuda, 2003, Brain Research.

Macular carotenoid levels of normal subjects and age-related maculopathy patients in a Japanese population.

Paul S. Bernstein, Toru Hirano, Masaki Tanito, 2008, Ophthalmology.

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism

T. Ogata, N. Matsumoto, T. Nomura, 2016, Journal of Human Genetics.

Clinical findings of acute acquired comitant esotropia in young patients

Miho Sato, Akiko Hikoya, Y. Hotta, 2021, Japanese Journal of Ophthalmology.

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa

Y. Wada, S. Nomura, T. Ogata, 2022, Genes.

Two cases of acquired bilateral trochlea nerve palsy treated by simultaneous inferior rectus muscle nasal transposition and inferior oblique muscle myectomy

Miho Sato, Akiko Hikoya, Y. Hotta, 2021, American journal of ophthalmology case reports.

Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778

K. Fujiki, A. Kanai, Y. Hotta, 1998, Journal of Human Genetics.

Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.

K. Fujiki, A. Kanai, Y. Hotta, 1999, Ophthalmic genetics.

A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy

K. Fujiki, A. Kanai, K. Yanashima, 1991, Japanese Journal of Human Genetics.

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations

H. Nakanishi, S. Minoshima, M. Ohtsubo, 2011, Journal of Human Genetics.

High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy.

M. Inoue, M. Yamada, K. Fujiki, 1992, Japanese journal of ophthalmology.

[A trial of molecular diagnosis in Leber's optic neuropathy].

K. Fujiki, A. Kanai, K. Yanashima, 1991, Nippon Ganka Gakkai zasshi.

Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient

T. Matsuura, Takaaki Hayashi, T. Nakano, 2020, Documenta Ophthalmologica.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations

S. Minoshima, T. Ogata, H. Saitsu, 2018, Japanese Journal of Ophthalmology.

Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient.

K. Fujiki, A. Kanai, K. Yanashima, 1993, American journal of ophthalmology.

[Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa].

M. Tamai, K. Fujiki, A. Kanai, 1992, Nippon Ganka Gakkai zasshi.

Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene.

M. Tamai, K. Fujiki, A. Kanai, 1992, Japanese journal of ophthalmology.

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

A. Murakami, K. Fujiki, A. Kanai, 1995, Japanese Journal of Human Genetics.

Regional differences in genes and variants causing retinitis pigmentosa in Japan

Y. Kamatani, T. Nakazawa, M. Kubo, 2021, Japanese Journal of Ophthalmology.

Analysis of peripherin/RDS gene for Japanese retinal dystrophies.

K. Fujiki, A. Kanai, M. Hayakawa, 1998, Japanese journal of ophthalmology.

Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals

H. Kawano, K. Fujiki, A. Kanai, 1995, Japanese Journal of Human Genetics.

Polymorphism of β-adrenergic receptors and susceptibility to open-angle glaucoma

K. Tsubota, A. Murakami, N. Fuse, 2006 .

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

S. Minoshima, H. Saitsu, Miho Sato, 2018, Scientific Reports.

Corneal amyloidosis caused by Leu 518 Pro mutation of â igh 3 gene

K. Fujiki, A. Kanai, Y. Hotta, 2000 .

Survey in to the Prevalence of Hearing Loss in Patients Diagnosed with Retinitis Pigmentosa

S. Iwasaki, M. Nagura, Y. Hotta, 2004, International Ophthalmology.

Recent aspect of optic neuropathy

K. Fujiki, Y. Hotta, 1999 .

Novel mutations in the myocilin gene in Japanese glaucoma patients

A. Kanai, Y. Inoue, M. Inatani, 2000, Human mutation.

Missense Mutations in the PAX 6 Gene in Aniridia

M. Yamada, N. Azuma, Y. Hotta, 2004 .

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

S. Minoshima, Miho Sato, Akiko Hikoya, 2015, Journal of ophthalmology.

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.

K. Fujiki, M. Hayakawa, R. Weleber, 1995, Genomics.

Mutations in the Norrie disease gene: a new mutation in a Japanese family.

K. Fujiki, M. Hayakawa, N. Ohba, 1995, The British journal of ophthalmology.

Japanese Patients with Fundus Albipunctatus Caused by RDH5 Gene Mutations

Makoto Nakamura, Y. Miyake, Y. Hotta, 2001 .

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene

H. Saitsu, M. Kosuga, T. Yokoi, 2023, Human Genome Variation.

An atypical Leber's hereditary optic neuropathy with the 11778 mutation.

K. Fujiki, A. Kanai, K. Yanashima, 1993, The British journal of ophthalmology.

Exophthalmos associated with chronic progressive external ophthalmoplegia

Miho Sato, Akiko Hikoya, Y. Hotta, 2022, Japanese Journal of Ophthalmology.

The level of erythrocyte aldose reductase is associated with the severity of diabetic retinopathy.

A. Kanai, M. Hayakawa, C. Nishimura, 1997, Diabetes research and clinical practice.

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa

Y. Hotta, Kentaro Kurata, Katsuhiro Hosono, 2018, Japanese Journal of Ophthalmology.

BMP4 expression in the developing rat retina

S. Mikawa, Kohji Sato, Y. Hotta, 2006, Brain Research.

Keratolysis in a patient with pemphigus vulgaris.

M. Takigawa, Y. Hotta, K. Koide, 2001, The British journal of ophthalmology.

The effect of levocabastine hydrochloride on human Tenon’s capsule fibroblasts: Inhibition of proliferation, suppression of DNA synthesis and induction of apoptosis

R. Asaoka, Haogang Zhu, Y. Hotta, 2009, Cutaneous and ocular toxicology.

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa

Y. Hotta, Kentaro Kurata, Katsuhiro Hosono, 2018, Documenta Ophthalmologica.