Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.-论文-万方医学网

第一作者： Shuhei,Kameya

第一单位： Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan.

作者： Shuhei,Kameya ^[1] ; Kaoru,Fujinami ^[2] ; Shinji,Ueno ^[3] ; Takaaki,Hayashi ^[4] ; Kazuki,Kuniyoshi ^[5] ; Ryuichi,Ideta ^[6] ; Sachiko,Kikuchi ^[7] ; Daiki,Kubota ^[8] ; Kazutoshi,Yoshitake ^[9] ; Satoshi,Katagiri ^[1] ; Hiroyuki,Sakuramoto ^[10] ; Taro,Kominami ^[1] ; Hiroko,Terasaki ^[11] ; Lizhu,Yang ^[7] ; Yu,Fujinami-Yokokawa ^[8] ; Xiao,Liu ^[6] ; Gavin,Arno ^[6] ; Nikolas,Pontikos ^[2] ; Yozo,Miyake ^[5] ; Takeshi,Iwata ^[2] ; Kazushige,Tsunoda ^[12] ; Japan Eye Genetics Consortium ^[13]

作者单位： Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan. ^[1] Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. ^[2] UCL Institute of Ophthalmology, London, United Kingdom. ^[3] Moorfields Eye Hospital, London, United Kingdom. ^[4] Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan. ^[5] Department of Ophthalmology, Nagoya University Graduate School of Medicine, Aichi, Japan. ^[6] Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan. ^[7] Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka, Japan. ^[8] IDETA Eye Hospital, Kumamoto City, Kumamoto, Japan. ^[9] Department of Ophthalmology, Chiba, Japan. ^[10] Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. ^[11] Graduate School of Health Management, Keio University, Kanagawa, Japan. ^[12] Division of Public Health, Yokokawa Clinic, Osaka, Japan. ^[13] Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), Chongqing, China. ^[14] North East Thames Regional Genetics Service, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. ^[15] Aichi Medical University, Aichi, Japan. ^[16]

主题词成年人(Adult);老年人(Aged);细胞周期蛋白质类(Cell Cycle Proteins);队列研究(Cohort Studies);色觉缺陷(Color Vision Defects);视网膜电描记术(Electroretinography);女(雌)性(Female);荧光素血管造影术(Fluorescein Angiography);人类(Humans);日本(Japan);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);系谱(Pedigree);表型(Phenotype);色素性视网膜炎(Retinitis Pigmentosa);体层摄影术, 光学相干(Tomography, Optical Coherence);视敏度(Visual Acuity);视野测试(Visual Field Tests);视野(Visual Fields);青年人(Young Adult)

DOI 10.1167/iovs.19-26650

PMID 31390656

发布时间 2022-12-07

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Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.

Investigative ophthalmology & visual science

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Investigative ophthalmology & visual science

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Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.

Investigative ophthalmology & visual science

相似文献

Investigative ophthalmology & visual science

相关期刊

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