A5100753573- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Retinal and Optic Conditions
- RNA regulation and disease
- Glaucoma and retinal disorders
- Retinal Imaging and Analysis
- interferon and immune responses
- Ocular Disorders and Treatments
- RNA Research and Splicing
- Cellular transport and secretion
- Drug-Induced Ocular Toxicity
- Biochemical Analysis and Sensing Techniques
- Retinopathy of Prematurity Studies
- Ocular Diseases and Behçet’s Syndrome
- Renal and Vascular Pathologies
- Cytomegalovirus and herpesvirus research
- RNA and protein synthesis mechanisms
- Genetic and Kidney Cyst Diseases
- melanin and skin pigmentation
- Retinal and Macular Surgery
- Connexins and lens biology
- Plant Reproductive Biology
- Biomedical Research and Pathophysiology
- Wnt/β-catenin signaling in development and cancer
- Skin and Cellular Biology Research
Peking Union Medical College Hospital
2015-2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2015-2024
Keio University
2017-2022
Tokyo Medical Center
2018-2022
National Hospital Organization
2018-2022
Wuxi No.2 People's Hospital
2007-2010
Nanjing Medical University
2010
Second Affiliated Hospital of Nanjing Medical University
2007-2008
Second Hospital of Shanxi Medical University
2007
Shanxi Medical University
2007
<h3>Background</h3> Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite dozen of genes involved in having been identified, the genetic basis remains unknown 20–30% patients. In this study, we aimed to identify novel disease-causing gene distinct subtype syndrome. <h3>Methods</h3> Ophthalmic examinations tests were performed on patients with two consanguineous families. Target capture sequencing was initially screen causative...
Purpose . To illustrate a data-driven deep learning approach to predicting the gene responsible for inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 aberration comparison with retinitis pigmentosa EYS normal subjects. Methods Seventy-five subjects IRD or no ocular diseases have been ascertained from database of Japan Eye Genetics Consortium; 10 retinopathy, 20 28 17 patients/subjects. Horizontal/vertical cross-sectional scans optical coherence tomography...
Abstract Biallelic variants in the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), with high prevalence Asian population. The purpose this study was to identify pathogenic variants, determine clinical/genetic spectrum -associated ( -RD), and discover disease-associated relatively allele frequency (1%-10%) nationwide Japanese cohort. Sixty-six affected subjects from 61 families biallelic or multiple pathogenic/disease-associated were ascertained by...
Abstract Inherited retinal disorder (IRD) is a leading cause of blindness, and CRX one number genes reported to harbour autosomal dominant (AD) recessive (AR) causative variants. Eighteen patients from 13 families with CRX-associated ( -RD) were identified 730 Japanese IRD. Ophthalmological examinations phenotype subgroup classification performed. The median age onset/latest examination was 45.0/62.5 years (range, 15–77/25–94). visual acuity in the right/left eye 0.52/0.40...
To investigate the utility of a data-driven deep learning approach in patients with inherited retinal disorder (IRD) and to predict causative genes based on fundus photography autofluorescence (FAF) imaging.Clinical genetic data from 1302 subjects 729 genetically confirmed families IRD registered Japan Eye Genetics Consortium were reviewed. Three categories diagnosis selected, high prevalence their genes: Stargardt disease (ABCA4), retinitis pigmentosa (EYS) occult macular dystrophy (RP1L1)....
Purpose: To characterize the clinical effects of two RP1L1 hotspots in patients with East Asian occult macular dystrophy (OMD). Methods: Fifty-one diagnosed OMD harboring monoallelic pathogenic variants (Miyake disease) from Japan, South Korea, and China were enrolled. Patients classified into genotype groups: group A, p.R45W, B, missense located between amino acids (aa) 1196 1201. The parameters genotypes compared, deep learning based on spectral-domain optical coherence tomographic...
Abstract Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic environmental factors. In the present study, we identified four unrelated IRD families with HK1 p.E851K variant, which was previously reported cause autosomal dominant retinitis pigmentosa...
Purpose: To characterize the phenotypic variability and report genetic defects in a cohort of Chinese patients with biallelic variants retinol dehydrogenase 12 ( RDH12 ) gene. Methods: The study included 38 from unrelated families pathogenic variants. Systematic next-generation sequencing data analysis, Sanger validation, segregation analysis were used to identify mutations. Detailed ophthalmic examinations, including electroretinogram, fundus photography, autofluorescence optical coherence...
<h3>Objective</h3> To study the clinical features and to identify pathogenic mutations in Chinese patients with achromatopsia (ACHM). <h3>Design</h3> Fifteen from 10 unrelated families were included this study. Detailed ocular examinations performed for affected subjects, including best-corrected visual acuity (BCVA), colour vision, slit lamp, fundus, electroretinography, perimetry, spectral domain optical coherent topography (SD-OCT). Peripheral blood samples obtained all of their family...
IFT81, a core component of the IFT-B complex, involved in bidirectional transport ciliary proteins, has been recently implicated syndromic ciliopathies. However, none complex proteins have associated with nonsyndromic retinal dystrophies. Given importance photoreceptor function and structural maintenance, we sought to investigate impact IFT (intraflagellar transport) mutations retinopathies.Whole exome sequencing was performed on 50 cone-rod dystrophy (CRD) patients that were previously...
Purpose: Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose this study was to characterize the phenotype eight patients from seven families harboring POC1B mutations in cohort Japan Eye Genetics Consortium (JEGC). Methods: Whole-exome sequencing targeted analyses identified homozygous or compound heterozygous gene 7 548 JEGC database. Ophthalmologic examinations including best-corrected visual acuity, perimetry, fundus...
Purpose: To determine the clinical and genetic characteristics of patients with GUCY2D-associated retinal disorder (GUCY2D-RD). Methods: Fifteen from 12 families inherited (IRD) harboring GUCY2D variants were ascertained 730 Japanese IRD. Comprehensive ophthalmological examinations, including visual acuity (VA) measurement, imaging, electrophysiological assessment performed to classify into three phenotype subgroups; macular dystrophy (MD), cone-rod (CORD), Leber congenital amaurosis (LCA)....
Abstract Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe clinical and genetic features 14 patients from 13 Japanese families harboring RPGR variants nationwide cohort. Comprehensive ophthalmological examinations were performed to classify into one phenotype subgroups: (RP) cone rod dystrophy (CORD). The mean age onset/at examination was 13.8/38.1 years (range, 0–50/11–72), respectively....
To describe the functional phenotypic features of East Asian patients with RP1L1-associated occult macular dystrophy (ie, Miyake disease).An international multicenter retrospective cohort study.Twenty-eight participants (53 eyes) disease were enrolled at 3 centers (in Japan, China, and South Korea). Ophthalmologic examinations including spectral-domain optical coherence tomography (SDOCT) multifocal electroretinogram (mfERG) performed. Patients classified into groups based on mfERG: Group 1,...
An amendment to this paper has been published and can be accessed via a link at the top of paper.
Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese patients are limited. We assessed the manifestations of pedigree identified genetic defect. Genetic analysis showed that 3 affected males carried novel small deletion in NHS gene, c.263_266delCGTC (p.Ala89TrpfsTer106), 2 female carriers were heterozygous for same variant. All presented...
Occult macular dystrophy (OMD) is the most prevalent form of in East Asia. Beyond RP1L1, causative genes and mechanisms remain largely uncharacterised. This study aimed to delineate clinical genetic characteristics OMD syndrome (OMDS). Patients clinically diagnosed with OMDS Japan, South Korea, China were enrolled. The inclusion criteria as follows: (1) dysfunction (2) normal fundus appearance. Comprehensive evaluation assessment performed identify disease-causing variants. Clinical...
Abstract X-linked ocular albinism (OA1) is an inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis G protein-coupled receptor 143 gene ( GPR143 ) assessed clinical characteristics OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), c.793C>T (p.R265X), were identified PCR followed Sanger sequencing these All affected individuals presented with nystagmus, photophobia, poor...
Purpose: The purpose of this study was to investigate the perimetric features and their associations with structural functional in patients RP1L1-associated occult macular dystrophy (OMD; i.e. Miyake disease). Methods: In international, multicenter, retrospective cohort study, 76 eyes 38 from an East Asian OMD were recruited. Visual field tests performed using standard automated perimetry, classified into three groups based on visual findings: central scotoma, other scotoma (e.g. paracentral...