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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Ophthalmology (Rochester, Minn.), 2015-02, Vol.122 (2), p.326-334

2015

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Occult macular dystrophy

Japanese journal of ophthalmology, 2015-03, Vol.59 (2), p.71-80

2015

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Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy

American journal of ophthalmology case reports, 2022-12, Vol.28, p.101706-101706, Article 101706

2022

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Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

Ophthalmology (Rochester, Minn.), 2018-05, Vol.125 (5), p.735-746

2018

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Detailed analyses of microstructure of photoreceptor layer at different severities of occult macular dystrophy by ultrahigh-resolution SD-OCT

American journal of ophthalmology case reports, 2022-06, Vol.26, p.101490-101490, Article 101490

2022

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Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings

Investigative ophthalmology & visual science, 2019-11, Vol.60 (14), p.4691-4700

2019

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A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations

Investigative ophthalmology & visual science, 2013-12, Vol.54 (13), p.8181-8190

2013

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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

American journal of ophthalmology, 2013-06, Vol.155 (6), p.1075-1088.e13

2013

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The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

Ophthalmology (Rochester, Minn.), 2013-11, Vol.120 (11), p.2324-2331

2013

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Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis

Japanese journal of ophthalmology, 2021, Vol.65 (1), p.42-53

2021

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Stimulus-induced changes of reflectivity detected by optical coherence tomography in macaque retina

Investigative ophthalmology & visual science, 2013-09, Vol.54 (9), p.6345-6354

2013

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Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

PloS one, 2014-09, Vol.9 (9), p.e108721-e108721

2014

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Highly Reflective Foveal Region in Optical Coherence Tomography in Eyes with Vitreomacular Traction or Epiretinal Membrane

Ophthalmology (Rochester, Minn.), 2012-03, Vol.119 (3), p.581-587

2012

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Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

American journal of human genetics, 2010-09, Vol.87 (3), p.424-429

2010

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CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

Retina (Philadelphia, Pa.), 2020-01, Vol.40 (1), p.181

2020

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A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder

Human genome variation, 2021-12, Vol.8 (1), p.46-46, Article 46

2021

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Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort

American journal of ophthalmology, 2016-08, Vol.168, p.86-94

2016

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Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia

Genes, 2023-07, Vol.14 (7), p.1483

2023

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Advanced quantitative analysis of the sub-retinal pigment epithelial space in recurrent neovascular age-related macular degeneration

PloS one, 2017-11, Vol.12 (11), p.e0186955-e0186955

2017

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Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.694-707

2020

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Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome

Case reports in ophthalmology, 2019-05, Vol.10 (2), p.186-194

2019

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Progress of macular atrophy during 30 months’ follow-up in a patient with spinocerebellar ataxia type1 (SCA1)

Documenta ophthalmologica, 2021-02, Vol.142 (1), p.87-98

2021

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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, 2023-09, Vol.14 (10), p.1869

2023

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The Efficacy of Transcorneal Electrical Stimulation for the Treatment of Primary Open-angle Glaucoma: A Pilot Study

The Keio Journal of Medicine, 2017, Vol.67(3), pp.45-53

2017

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Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2 -Associated Retinopathy

International journal of molecular sciences, 2020-02, Vol.21 (4), p.1331

2020

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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Occult macular dystrophy

Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

Detailed analyses of microstructure of photoreceptor layer at different severities of occult macular dystrophy by ultrahigh-resolution SD-OCT

Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings

A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations

A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis

Stimulus-induced changes of reflectivity detected by optical coherence tomography in macaque retina

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

Highly Reflective Foveal Region in Optical Coherence Tomography in Eyes with Vitreomacular Traction or Epiretinal Membrane

Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder

Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort

Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia

Advanced quantitative analysis of the sub-retinal pigment epithelial space in recurrent neovascular age-related macular degeneration

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome

Progress of macular atrophy during 30 months’ follow-up in a patient with spinocerebellar ataxia type1 (SCA1)

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

The Efficacy of Transcorneal Electrical Stimulation for the Treatment of Primary Open-angle Glaucoma: A Pilot Study

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2 -Associated Retinopathy

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