{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T04:05:06Z","timestamp":1747713906832,"version":"3.40.5"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:00:00Z","timestamp":1740096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:00:00Z","timestamp":1740096000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000272","name":"DH | National Institute for Health Research","doi-asserted-by":"publisher","award":["n.a."],"award-info":[{"award-number":["n.a."]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>To present the morphological and functional characteristics of individuals with benign yellow dot maculopathy (BYDM).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Assessments included ocular examinations, best-corrected visual acuity (BCVA) testing, optical coherence tomography (OCT), blue-light fundus autofluorescence (BAF), and near-infrared autofluorescence (NIR-AF). First degree family members were also examined whenever available.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>25 individuals with BYDM (15 females, 10 males) from 19 unrelated families with a median age at first presentation of 37 years (range, 4\u201354 years)\u00a0were included in the study. The 19 index patients were referred for assessment of early-onset drusen (<jats:italic>n<\/jats:italic>\u2009=\u200910), macular dystrophy (<jats:italic>n<\/jats:italic>\u2009=\u20096), or an unrelated ocular condition (<jats:italic>n<\/jats:italic>\u2009=\u20093). Clinical examination of 15 first-degree family members of 8 probands revealed vertical transmission in 6 relatives. After excluding 6 patients with other ocular pathologies, BCVA was 20\/25 or better in all patients. Fundoscopically, all patients had yellow dots in the macular area, extending to the vascular arcades in 19 and beyond in 11 individuals. Hyper-autofluorescent dots on BAF topographical matched the dots seen on fundoscopy, while hypo-autofluorescent dots were noted on NIR-AF. OCT revealed no abnormalities in 14 cases, but mild ellipsoid zone irregularities were observed in 11. No morphological or functional progression was noted in 15 individuals over an average follow-up period of 3.6 years.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>BYDM may present with a mild phenotype with yellow dots extending to the vascular arcades and beyond, suggesting it could be more common than previously reported. Recognizing this phenotype may reduce unnecessary investigations and follow-ups. Yellow dots show hypo-autofluorescence on NIR-AF and there is no morphological or functional progression.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1038\/s41433-024-03590-4","type":"journal-article","created":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:01:06Z","timestamp":1740146466000},"page":"1547-1552","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Extended phenotypic spectrum of benign yellow dot maculopathy"],"prefix":"10.1038","volume":"39","author":[{"given":"Peter","family":"Kiraly","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7699-2112","authenticated-orcid":false,"given":"Johannes","family":"Birtel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9300-573X","authenticated-orcid":false,"given":"Ariel Y.","family":"Ong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Ruan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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