{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T03:14:52Z","timestamp":1791602092050,"version":"4.3.4"},"reference-count":19,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T00:00:00Z","timestamp":1605484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Peripheral pigmentary changes are common amongst women with Danon disease; however, there is currently a lack of longitudinal observational studies of the retinal changes in this condition, and the long-term visual prognosis is not well understood. Methods and Results: In this report, we present long-term follow-up data (12 years of follow-up) regarding peripheral retinopathy in an Asian woman and her mother who were both diagnosed with Danon disease. Both patients showed a novel nonsense mutation of the LAMP2 gene (c.123 of exon 2). During the follow-up period, no evident extension of peripheral pigmented lesions or visual field progression was observed. Conclusions: We report, for the first time, the long-term longitudinal follow-up of Danon disease-related retinopathy in an Asian patient featuring an indolent macular-sparing peripheral lesion.<\/jats:p>","DOI":"10.3390\/genes11111356","type":"journal-article","created":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T21:48:52Z","timestamp":1605563332000},"page":"1356","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5729-2233","authenticated-orcid":false,"given":"Jee Myung","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Asan Medical Center Children\u2019s Hospital, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gi-Byoung","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June-Gone","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2187-196X","authenticated-orcid":false,"given":"Joo Yong","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/WNL.31.1.51","article-title":"Lysosomal glycogen storage disease with normal acid maltase","volume":"31","author":"Danon","year":"1981","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1097\/GIM.0b013e31820ad795","article-title":"Natural history of Danon disease","volume":"13","author":"Boucek","year":"2011","journal-title":"Genet. 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