{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T20:12:13Z","timestamp":1768421533501,"version":"3.49.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/deed.de"},{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/deed.de"}],"funder":[{"name":"Universit\u00e4tsklinikum Bonn"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ophthalmologie"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Hintergrund und Fragestellung<\/jats:title>\n                    <jats:p>Das Bardet-Biedl-Syndrom (BBS) ist eine seltene, genetisch bedingte, syndromale Erkrankung, die durch eine Vielzahl von klinischen Symptomen gekennzeichnet ist. Ziel der aktuellen Arbeit ist die Beschreibung klinischer und genetischer Merkmale von BBS-Patienten mit besonderem ophthalmologischen Fokus.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Material und Methoden<\/jats:title>\n                    <jats:p>In einer retrospektiven Analyse der Universit\u00e4ts-Augenklinik Bonn wurden Daten von 18\u00a0Patienten mit einer molekulargenetisch best\u00e4tigten BBS-Diagnose ausgewertet. Es erfolgte neben einer Anamnese die klinische Untersuchung einschlie\u00dflich einer multimodalen Bildgebung, der Erhebung von Funktionsdaten sowie einer molekulargenetischen Diagnostik.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Ergebnisse<\/jats:title>\n                    <jats:p>\n                      17\u00a0Patienten (17\/18; 94\u202f%) zeigten typische Netzhautver\u00e4nderungen, die mit einer Retinitis pigmentosa (RP) vereinbar waren. Ein Patient (1\/18; 6\u202f%) wies eine zentrale Zapfen-St\u00e4bchen-Dystrophie ohne periphere Ver\u00e4nderungen auf. Zus\u00e4tzlich wurden weitere nichtophthalmologische Symptome und klinische Zeichen wie Anomalien der Gliedma\u00dfen (9\/18; 50\u202f%), Adipositas (7\/18; 39\u202f%), Anomalien des Urogenitaltraktes (7\/18; 39\u202f%) sowie neurologische Symptome (8\/18; 44\u202f%) erfasst. Molekulargenetische Untersuchungen identifizierten krankheitsverursachende Varianten in mehreren BBS-Genen, darunter das\n                      <jats:italic>BBS1(Bardet-Biedl-Syndrom)1<\/jats:italic>\n                      -Gen\u00a0(9),\n                      <jats:italic>BBS10-<\/jats:italic>\n                      \u00a0(3),\n                      <jats:italic>BBS7-<\/jats:italic>\n                      \u00a0(1),\n                      <jats:italic>BBS12-<\/jats:italic>\n                      \u00a0(1) und das\n                      <jats:italic>MKKS(McKusick-Kaufmann Syndrom)<\/jats:italic>\n                      -Gen\u00a0(2). Die zeitliche Distanz zwischen dem Auftreten der ersten ophthalmologischen Symptome und der endg\u00fcltigen genetischen Diagnose betrug durchschnittlich 15\u00a0Jahre (Median\u00a010, min\u2013max: 1\u201336).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Diskussion<\/jats:title>\n                    <jats:p>Diese Studie unterstreicht die Bedeutung eines interdisziplin\u00e4ren Ansatzes bei der Diagnose und Behandlung von BBS-Patienten. Die klinische Heterogenit\u00e4t von BBS kann zu diagnostischen Verz\u00f6gerungen f\u00fchren. Eine fr\u00fchzeitige Diagnose erm\u00f6glicht eine angemessene genetische Beratung, die Monitorierung des Krankheitsverlaufs, den individuellen Therapiebeginn sowie die Entwicklung potenzieller therapeutischer Interventionen.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00347-025-02339-y","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T16:50:09Z","timestamp":1763139009000},"page":"29-39","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Achtzehn Patienten mit Bardet-Biedl-Syndrom aus Sicht der augen\u00e4rztlichen Versorgung","Ophthalmological care of patients with Bardet-Biedl syndrome"],"prefix":"10.1007","volume":"123","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1845-7700","authenticated-orcid":false,"given":"Elisa A.","family":"Mahler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constanze L.","family":"Kochs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlene","family":"Sa\u00dfmannshausen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine H.","family":"K\u00fcnzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Wabbels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank G.","family":"Holz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,11,14]]},"reference":[{"key":"2339_CR1","doi-asserted-by":"publisher","first-page":"1424819","DOI":"10.3389\/fendo.2024.1424819","volume":"15","author":"M Nowak-Cio\u0142ek","year":"2024","unstructured":"Nowak-Cio\u0142ek\u00a0M, Cio\u0142ek\u00a0M, Tomaszewska\u00a0A, Hildebrandt\u00a0F, Kitzler\u00a0T, Deutsch\u00a0K, Lemberg\u00a0K, Shril\u00a0S, Szczepa\u0144ska\u00a0M, Zachurzok\u00a0A (2024) Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. 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C.\u00a0Kochs: None. M.\u00a0Sa\u00dfmannshausen: Nidek\u00a0(F). S.H.\u00a0K\u00fcnzel: None. B.\u00a0Wabbels: Forschungsf\u00f6rderung: Allergan, Merz, Referentenhonorare: Desitin, Merz. F.G.\u00a0Holz: Forschungsf\u00f6rderung: Acucela, Allergan, Apellis, Bayer, Belite Bio, Bioeq, CenterVue, Geuder, Roche\/Genentech, Heidelberg Engineering, ivericBio\/Astellas, NightStarx, Novartis, Optos, Science, Zeiss, Beratung: Acucela, Alcon, Alexion, Alzheon, Apellis, Bayer, Boehringer Ingelheim, Genentech\/Roche, Grayburg Vision, Heidelberg Engineering, ivericBio\/Astellas, Lin Bioscience, Janssen, Novartis, Oculis, Opthea, Oxurion, Science, Stealth Biotherapeutics, Zeiss. P.\u00a0Herrmann: Berater, Vortr\u00e4ge Novartis, Johnson & Johnson, Forschungsf\u00f6rderung Novartis.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}},{"value":"F\u00fcr diesen Beitrag wurden von den Autor\/-innen keine Studien an Menschen oder Tieren durchgef\u00fchrt. F\u00fcr die aufgef\u00fchrten Studien gelten die jeweils dort angegebenen ethischen Richtlinien. F\u00fcr Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, \u00fcber die Patient\/-innen zu identifizieren sind, liegt von ihnen und\/oder ihren gesetzlichen Vertretern\/ Vertreterinnen eine schriftliche Einwilligung vor.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}