Yozo Miyake

Yozo Miyake

Laboratory Of Visual Physiology, National Institute Of Sensory Organs (Drs Fujinami, Tsunoda, Hanazono, Shinoda, Ohde, And Miyake), And Department Of Ophthalmology, Kikkoman ...

Direct Impact

Concepts for which Yozo Miyake has direct influence:

cone dystrophy
fundus albipunctatus
east asian
visual acuity
foveal thickness
oscillatory potentials
focal macular electroretinograms

External impact

Concepts related to the work of other authors for which Yozo Miyake has influence:

east asian
occult macular dystrophy
allele frequency
genetic characteristics
visual acuity
retinal function
13 japanese families

Prominent publications by Yozo Miyake

KOL-Index: 91 Variants in the PROM1 gene are associated with cone (-rod) dystrophy, macular dystrophy, and other phenotypes. We describe the clinical and genetic characteristics of 10 patients from eight Japanese families with PROM1-associated retinal disorder (PROM1-RD) in a nationwide cohort. A literature review of PROM1-RD in the Japanese population was also performed. The median age at ...
Known for
Generalized Cone-Dominated Retinal Dysfunction | Cone -Rod Dystrophy | Literature Japanese | Putative Disease-Causing
KOL-Index: 61 PURPOSE: To describe the functional phenotypic features of East Asian patients with RP1L1-associated occult macular dystrophy (ie, Miyake disease). DESIGN: An international multicenter retrospective cohort study. METHODS: Twenty-eight participants (53 eyes) with Miyake disease were enrolled at 3 centers (in Japan, China, and South Korea). Ophthalmologic examinations including spectral-domain ...
Known for
Homogeneous Central Widespread Dysfunction | Preserved Central | Twenty-Eight | Morphologic Phenotype
KOL-Index: 61 Purpose: Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a cohort of the Japan Eye Genetics Consortium (JEGC). Methods: Whole-exome sequencing with targeted analyses identified homozygous or compound ...
Known for
Funduscopic | Normal Scotopic Responses | Full-Field Photopic Ergs | Blurred Ellipsoid Zone
KOL-Index: 52 Inherited retinal disorder (IRD) is a leading cause of blindness, and CRX is one of a number of genes reported to harbour autosomal dominant (AD) and recessive (AR) causative variants. Eighteen patients from 13 families with CRX-associated retinal disorder (CRX-RD) were identified from 730 Japanese families with IRD. Ophthalmological examinations and phenotype subgroup classification were ...
Known for
13 Families | Inheritance | Heterozygous | Eighteen
KOL-Index: 50 Purpose: To determine the clinical and genetic characteristics of patients with GUCY2D-associated retinal disorder (GUCY2D-RD). Methods: Fifteen patients from 12 families with inherited retinal disorder (IRD) and harboring GUCY2D variants were ascertained from 730 Japanese families with IRD. Comprehensive ophthalmological examinations, including visual acuity (VA) measurement, retinal ...
Known for
Early-Onset Severe Phenotype | Disorder Gucy2d | Arlca Japanese | Electrophysiological
KOL-Index: 43 Purpose: The purpose of this study was to investigate the perimetric features and their associations with structural and functional features in patients with RP1L1-associated occult macular dystrophy (OMD; i.e. Miyake disease). Methods: In this international, multicenter, retrospective cohort study, 76 eyes of 38 patients from an East Asian cohort of patients with RP1L1-associated OMD were ...
Known for
Scotoma Eyes | Severe Pattern | Groups Visual | Automated Perimetry
KOL-Index: 38 Purpose: To determine the course of occult macular dystrophy (OMD, Miyake's disease) and to propose stages of OMD based on the optical coherence tomographic (OCT) findings. Methods: Sixty-one patients from 33 families with OMD who carried one of the proven variants of the RP1L1 gene were studied at seven centers in Japan. Ophthalmological examinations including the best-corrected visual ...
Known for
Omd Bcva | Kaplan-Meier Survival Curves | Sixty-One | 10 88
KOL-Index: 36 The retinitis pigmentosa 2 (RP2) gene is one of the causative genes for X-linked inherited retinal disorder. We characterized the clinical/genetic features of four patients with RP2-associated retinal disorder (RP2-RD) from four Japanese families in a nationwide cohort. A systematic review of RP2-RD in the Japanese population was also performed. All four patients were clinically diagnosed ...
Known for
Characteristic Features | Additional 11 | Logarithm | Early Macular Involvement
KOL-Index: 36 PURPOSE: Autosomal dominant optic atrophy (ADOA) is characterized by symmetrical bilateral optic atrophy associated with reduced corrected visual acuity (VA), central or centrocecal scotoma, and color vision disturbances. The disease is genetically heterogeneous, and the OPA1 gene has been identified as the only causative gene. The aims of this study were to identify and report mutations in ...
Known for
Adoa Sporadic
KOL-Index: 35 PurposeTo report the findings in two patients with unilateral cone-rod dysfunction with the a-wave larger than the b-wave, i.e., negative-type, full-field electroretinogram (ERG).MethodsStandard ophthalmological examinations were performed including the medical history, measurements of the best-corrected visual acuity and intraocular pressures, slit-lamp biomicroscopy, ophthalmoscopy, ...
Known for
Cone Rod | Ergs Reduced

Laboratory of Visual Physiology, National Institute of Sensory Organs (Drs Fujinami, Tsunoda, Hanazono, Shinoda, Ohde, and Miyake), and Department of Ophthalmology, Kikkoman General Hospital, Noda City (Dr Hanazono), Teikyo University School of Medic

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