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Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3.

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机构: [1]Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul, South Korea. [2]Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. [3]Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan. [4]Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. [5]Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Mie, Japan. [6]Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. [7]Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan. [8]Division of Public Health, Yokokawa Clinic, Suita, Japan. [9]UCL Institute of Ophthalmology, London, United Kingdom. [10]Department of Ophthalmology, The University of Tokyo, Tokyo, Japan. [11]Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. [12]Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea. [13]Aichi Medical University, Nagakute, Aichi, Japan. [14]Next Vision, Kobe Eye Center, Kobe, Hyogo, Japan. [15]Moorfields Eye Hospital, London, United Kingdom.
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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).In this international, multicenter, retrospective cohort study, 76 eyes of 38 patients from an East Asian cohort of patients with RP1L1-associated OMD were recruited. Visual field tests were performed using standard automated perimetry, and the patients were classified into three perimetric groups based on the visual field findings: central scotoma, other scotoma (e.g. paracentral scotoma), and no scotoma. The association of the structural and functional findings with the perimetric findings was evaluated.Fifty-four eyes (71.1%) showed central scotoma, 14 (18.4%) had other scotomata, and 8 (10.5%) had no scotoma. Central scotoma was mostly noted in both eyes (96.3%) and within the central 10 degrees (90.7%). Among the three perimetric groups, there were significant differences in visual symptoms, best-corrected visual acuity (BCVA), and structural phenotypes (i.e. severity of photoreceptor changes). The central scotoma group showed worse BCVA often with severe structural abnormalities (96.3%) and a pathogenic variant of p.R45W (72.2%). The multifocal electroretinogram (mfERG) groups largely corresponded with the perimetric groups; however, 8 (10.5%) of 76 eyes showed mfERG abnormalities preceding typical central scotoma.The patterns of scotoma with different clinical severity were first identified in occult macular dystrophy, and central scotoma, a severe pattern, was most frequently observed. These perimetric patterns were associated with the severity of BCVA, structural phenotypes, genotype, and objective functional characteristics which may precede in some cases.

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出版当年[2021]版:
大类 | 2 区 医学
小类 | 2 区 眼科学
最新[2023]版:
大类 | 2 区 医学
小类 | 2 区 眼科学
第一作者:
第一作者机构: [1]Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul, South Korea.
通讯作者:
通讯机构: [2]Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. [6]Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. [9]UCL Institute of Ophthalmology, London, United Kingdom. [12]Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea. [15]Moorfields Eye Hospital, London, United Kingdom. [*1]Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo 152-8902, Japan [*2]Department of Ophthalmology, Peking Union Medical College Hospital, 1 Shuai Fu Yuan, Dongcheng District, Beijing 100730, China [*3]Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, 173-82 Gumi-ro, Bundang-gu, Seongnam-si, Gyeonggi-do 13620, South Korea
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