A5077758288- Retinal Development and Disorders
- Retinal and Macular Surgery
- Retinal Diseases and Treatments
- melanin and skin pigmentation
- Intraocular Surgery and Lenses
- Retinopathy of Prematurity Studies
- Connexins and lens biology
- Ocular Disorders and Treatments
- Neonatal Respiratory Health Research
- Wnt/β-catenin signaling in development and cancer
- RNA regulation and disease
- Biochemical Analysis and Sensing Techniques
- Ubiquitin and proteasome pathways
- Ocular Oncology and Treatments
- Cerebral Venous Sinus Thrombosis
- Connective tissue disorders research
- Cerebrovascular and genetic disorders
- Ocular Diseases and Behçet’s Syndrome
- Corneal Surgery and Treatments
- Obesity, Physical Activity, Diet
- Yersinia bacterium, plague, ectoparasites research
- Cell Adhesion Molecules Research
- Obesity and Health Practices
- Tuberculosis Research and Epidemiology
- Hedgehog Signaling Pathway Studies
University of Occupational and Environmental Health Japan
2012-2024
Kyushu Sangyo University
2021
To determine the clinical characteristics of familial exudative vitreoretinopathy (FEVR) associated with or without pathogenic variants Norrin/β-catenin genes.
Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive degeneration. Here, we report the genetic characterization 1210 IRD pedigrees enrolled through Japan Eye Genetic Consortium analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37%...
Stickler syndrome is an inherited connective tissue disorder that affects the eyes, cartilage and articular tissues. The phenotypes of include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment craniofacial anomalies, such as cleft palate midline facial hypoplasia. disease genetically heterogeneous, majority cases are caused by mutations in COL2A1 gene. We examined 40 Japanese patients with from 23 families to determine whether they had This analysis...
The human fovea is a specialized pit structure in the central retina. Foveal hypoplasia condition where foveal does not fully develop, and it associated with poor vision. Autosomal dominant isolated (FVH1) rare of (FH) that lacks any other ocular manifestations. FVH1 hypomorphic mutations PAX6 gene encodes sequence-specific DNA-binding transcription factor for morphogenesis evolution eye. We report our findings 17 patients or FH aniridia corneal opacities. Patients three mutations, p.V78E,...
To determine the clinical characteristics of patients and family members with familial exudative vitreoretinopathy (FEVR) caused by mutations in KIF11 gene.
Purpose: To determine the characteristics of fundus autofluorescence (FAF) images and visual functions in eyes with Stickler syndrome using ultra-widefield FAF images. Methods: Forty-six 26 patients mutations COL2A1 gene underwent imaging. The were categorized into three types; no signs abnormal AF, predominantly hyperfluorescent AF (hyper-AF), hypofluorescent (hypo-AF). Goldmann perimetry was performed on 34 eyes, line-scan lesions obtained by swept-source optical coherence tomography 4...
The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of COL2A1 gene.We reviewed clinical records 10 eyes six from two families syndrome. members both were heterozygous for mutation. features including visual acuity, fundus appearances, autofluorescence (FAF), optical coherence tomographic (OCT) images, and electroretinograms examined.Myopia -12 diopters (D) -24 D an average -16.8 was observed 9 5 patients. FAF images showed...
Autosomal dominant isolated foveal hypoplasia (FVH1) is a rare condition of (FH) that lacks any other ocular manifestations. FVH1 associated with hypomorphic mutations in the PAX6 gene. We report our findings 17 patients or FH aniridia and corneal opacities. Patients three mutations, p.V78E, p.V83F p.R128H, C-terminal subdomain paired domain (CTS) consistently had severe FH. Luciferase assays indicated transcriptional activities these were significantly reduced comparable to truncation...
Abstract This study investigated the surgical outcomes of Coats disease and role external drainage (XD) subretinal fluid (SRF). The is a multicenter retrospective interventional case series 26 consecutive eyes patients who underwent surgeries for advanced with retinal detachment. Main measured were: 1) comparison complete SRF resolution or without XD, 2) variables that were associated functional postoperative best-corrected visual acuity (BCVA) defined as BCVA 0.1 better, 3) intraocular...
Purpose: To present the clinical characteristics, surgical outcomes, and complications of patients with congenital X-linked retinoschisis who underwent vitrectomy for bullous schisis cavity hanging over or threatening macula. Methods: Nine (12 eyes) at three tertiary hospitals completed ≥3 years postoperative follow-up were retrospectively investigated. Data collected from patients' charts, including age vitrectomy, procedures, complications. Results: The ranged 4 months to 103 (median: 14...
Introduction Retinopathy of prematurity (ROP) is a vascular proliferative disorder that occurs in preterm infants. Existing treatments are only indicated severe ROP cases due to the high invasiveness and potential risk irreversible side effects. We previously elucidated ripasudil, selective inhibitor Rho-associated protein kinase, has ability inhibit abnormal retinal neovascularisation animal models. In addition, ripasudil eye drops (Glanatec ophthalmic solution 0.4%) have been already used...
Introduction Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and peripheral half the patients. Although optical coherence tomography (OCT) findings of have been well investigated, those rarely reported. This study aimed to report ultra-widefield OCT retina with XLRS. Methods Medical records 10 Japanese (19 eyes) clinically and/or genetically diagnosed XLRS were retrospectively reviewed. Funduscopic, electroretinographic, reviewed...
Iwahashi, Chiharu MD; Matsushita, Itsuka Kuniyoshi, Kazuki Kondo, Hiroyuki Kusaka, Shunji MD Author Information