Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 안성준 | - |
dc.date.accessioned | 2022-03-22T00:55:52Z | - |
dc.date.available | 2022-03-22T00:55:52Z | - |
dc.date.issued | 2020-07 | - |
dc.identifier.citation | AMERICAN JOURNAL OF OPHTHALMOLOGY, v. 221, page. 169-180 | en_US |
dc.identifier.issn | 0002-9394 | - |
dc.identifier.issn | 1879-1891 | - |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S0002939420303822?via%3Dihub | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/169281 | - |
dc.description.abstract | 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 optical coherence tomography (SDOCT) and multifocal electroretinogram (mfERG) were performed. Patients were classified into 3 functional groups based on mfERG: Group 1, paracentral dysfunction with relatively preserved central/peripheral function; Group 2, homogeneous central dysfunction with preserved peripheral function; and Group 3, widespread dysfunction over the recorded area. Three functional phenotypes were compared in clinical parameters and SDOCT morphologic classification (severe phenotype, blurred/flat ellipsoid zone and absence of the interdigitation zone; mild phenotype, preserved ellipsoid zone). RESULTS: There were 8 eyes in Group 1, 40 eyes in Group 2, and 5 eyes in Group 3. The patients in Group 1 showed significantly later onset (P = .005) and shorter disease duration (P = .002), compared with those in Group 2. All 8 eyes in Group 1 showed the mild morphologic phenotype, while 43 of 45 eyes in Groups 2 and 3 presented the severe phenotype, which identified a significant association between the functional grouping and the morphologic classification (P<.001). CONCLUSIONS: A spectrum of functional phenotypes of Miyake disease was first documented with identification of 3 functional subtypes. Patients with paracentral dysfunction had the mildest phenotype, and those with homogeneous central or widespread dysfunction showed overlapping clinical findings with severe photoreceptor changes, suggesting various extents of visual impairment. | en_US |
dc.description.sponsorship | THE EAOMD STUDIES ARE SUPPORTED BY A GRANT-IN-AID FOR YOUNG SCIENTISTS (A) OF THE MINISTRY of Education, Culture, Sports, Science and Technology, Japan (16H06269); and Grant-in-Aid for Scientists to support international collaborative studies of the Ministry of Education, Culture, Sports, Science and Technology, Japan (16KK01930002). The authors also indicate the following support: Kazushige Tsunoda: Support-Japan Agency for Medical Research and Development, the Ministry of Health, Labor and Welfare, Japan (18ek0109282h0002); Grants-for Scientific Research, Japan Society for the Promotion of Science, Japan (H26-26462674). Yu Fujinami-Yokokawa: Grants-Grant-in-Aid for Young Scientists of the Ministry of Education, Culture, Sports, Science and Technology, Japan (18K16943). Gavin Arno: Support-Fight for Sight (UK) Early Career Investigator award, NIHR-BRCat Moorfields Eye Hospital and the UCL Institute of Ophthalmology, and Great Britain Sasakawa Foundation Butterfield Award, UK. Anthony G. Robson: Support-is supported by the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology and by the Moorfields Eye Charity. Toshihide Kurihara: Support-Tsubota Laboratory, Inc, Fuji Xerox Co, Ltd, Kirin Company, Ltd, Kowa Company, Ltd, Novartis Pharmaceuticals, Santen Pharmaceutical Co, Ltd, ROHTO Pharmaceutical Co, Ltd. Takeshi Iwata: Support-AMED (18ek0109282h0002). Se Joon Woo: Grants-Seoul National University Bundang Hospital (16-2019-003), National Research Foundation of Korea grant 2016R1D1A1B03934724, funded by the Korean government (Ministry of Science, ICT and Future Planning [MSIP]). Ruifang Sui: Grants-Foundation Fighting Blindness (CD-CL-0214-0631-PUMCH); CAMS Innovation Fund for Medical Sciences, China, CIFMS 201612M-1-002; National Natural Science Foundation of China, China, 81873687. Kaoru Fujinami: Grants-Grant-in-Aid for Young Scientists (A) of the Ministry of Education, Culture, Sports, Science and Technology, Japan (16H06269); Grant-in-Aid for Scientists to support international collaborative studies of the Ministry of Education, Culture, Sports, Science and Technology, Japan (16KK01930002); National Hospital Organization Network Research Fund, Japan (H30-NHO-Sensory Organs-03); AMED (18ek0109355h0001); Foundation Fighting Blindness Alan Laties Career Development Program (CF-CL-0416-0696-UCL), USA; Health Labour Sciences Research Grant, The Ministry of Health Labour and Welfare, Japan (201711107A); Great Britain Sasakawa Foundation Butterfield Awards, UK. Role of the Funder/Sponsor: the sponsor or funding organization had no role in the design or conduct of this research. | en_US |
dc.language.iso | en | en_US |
dc.publisher | ELSEVIER SCIENCE INC | en_US |
dc.subject | MULTIFOCAL ELECTRORETINOGRAPHY | en_US |
dc.subject | FUNDUS AUTOFLUORESCENCE | en_US |
dc.subject | RETINITIS-PIGMENTOSA | en_US |
dc.subject | STARGARDT DISEASE | en_US |
dc.subject | RP1L1 VARIANTS | en_US |
dc.subject | MUTATIONS | en_US |
dc.subject | PATTERN | en_US |
dc.subject | COHORT | en_US |
dc.subject | FAMILY | en_US |
dc.subject | MFERG | en_US |
dc.title | Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease) | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1016/j.ajo.2020.07.025 | - |
dc.relation.page | 1-12 | - |
dc.relation.journal | AMERICAN JOURNAL OF OPHTHALMOLOGY | - |
dc.contributor.googleauthor | Yang, Lizhu | - |
dc.contributor.googleauthor | Joo, Kwangsic | - |
dc.contributor.googleauthor | Tsunoda, Kazushige | - |
dc.contributor.googleauthor | Kondo, Mineo | - |
dc.contributor.googleauthor | Fujinami-Yokokawa, Yu | - |
dc.contributor.googleauthor | Arno, Gavin | - |
dc.contributor.googleauthor | Pontikos, Nikolas | - |
dc.contributor.googleauthor | Liu, Xiao | - |
dc.contributor.googleauthor | Nakamura, Natsuko | - |
dc.contributor.googleauthor | Ahn, Seong Joon | - |
dc.relation.code | 2020049244 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | ahnsj81 | - |
dc.identifier.orcid | https://orcid.org/0000-0002-4545-8344 | - |
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