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macular dystrophy in East Asia. Beyond RP1L1, causative genes and mechanisms remain largely uncharacterised. This study aimed to delineate the clinical and genetic characteristics of OMD syndrome (OMDS). Patients clinically diagnosed with OMDS in Japan, South Korea, and China were enrolled. The inclusion criteria were as follows: (1) macular dysfunction and (2) normal fundus appearance. Comprehensive clinical evaluation and genetic assessment were performed to identify the disease-causing variants. Clinical parameters were compared among the genotype groups. Seventy-two patients with OMDS from fifty families were included. The causative genes were RP1L1 in forty-seven patients from thirty families (30\/50, 60.0%), CRX in two patients from one family (1\/50, 2.0%), GUCY2D in two patients from two families (2\/50, 4.0%), and no genes were identified in twenty-one patients from seventeen families (17\/50, 34.0%). Different severities were observed in terms of disease onset and the prognosis of visual acuity reduction. This multicentre large cohort study furthers our understanding of the phenotypic and genotypic spectra of patients with macular dystrophy and normal fundus. Evidently, OMDS encompasses multiple Mendelian retinal disorders, each representing unique pathologies that dictate their respective severity and prognostic patterns.<\/jats:p>","DOI":"10.3390\/genes14101869","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T08:55:01Z","timestamp":1695718501000},"page":"1869","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7555-5797","authenticated-orcid":false,"given":"Yu","family":"Fujinami-Yokokawa","sequence":"first","affiliation":[{"name":"Department of Health Policy and Management, Keio University School of Medicine, Tokyo 160-8582, Japan"},{"name":"Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo 152-8902, Japan"},{"name":"UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Division of Public Health, Yokokawa Clinic, Suita 564-0083, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lizhu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100193, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwangsic","family":"Joo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam 13620, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazushige","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo 152-8902, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Liu","sequence":"additional","affiliation":[{"name":"Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo 152-8902, Japan"},{"name":"Southwest Hospital, Army Medical University, Chongqing 400715, China"},{"name":"Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400715, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mineo","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Mie University Graduate School of Medicine, Mie 514-8507, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4545-8344","authenticated-orcid":false,"given":"Seong Joon","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul 04763, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100193, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyu Hyung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6401-2885","authenticated-orcid":false,"given":"Hisateru","family":"Tachimori","sequence":"additional","affiliation":[{"name":"Endowed Course for Health System Innovation, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Miyata","sequence":"additional","affiliation":[{"name":"Department of Health Policy and Management, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3692-7169","authenticated-orcid":false,"given":"Se Joon","family":"Woo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam 13620, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruifang","family":"Sui","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100193, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaoru","family":"Fujinami","sequence":"additional","affiliation":[{"name":"Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo 152-8902, Japan"},{"name":"UCL Institute of Ophthalmology, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital, London EC1V 2PD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/0002-9394(89)90120-7","article-title":"Hereditary macular dystrophy without 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