{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:42:47Z","timestamp":1792593767236,"version":"4.5.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/deed.de"},{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/deed.de"}],"funder":[{"name":"Rhythm Pharmaceuticals","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ophthalmologie"],"abstract":"<jats:title>Zusammenfassung<\/jats:title>\n                  <jats:p>\n                    Das Bardet-Biedl-Syndrom (BBS) ist eine genetisch bedingte Multiorganerkrankung  mit den charakteristischen Merkmalen einer angeborenen postaxialen Polydaktylie, Adipositas, Hyperphagie und in der Kindheit auftretenden Netzhautdystrophie. Die Erkrankung ist sowohl klinisch als auch molekulargenetisch heterogen: Sie wird verursacht durch Mutationen in mindestens 26\u00a0Genen und die variablen extraokul\u00e4ren Manifestationen schlie\u00dfen beispielsweise eine Entwicklungsverz\u00f6gerung, einen Diabetes mellitus und eine Leberverfettung ein. Die Netzhautdystrophie zeigt ebenfalls ein breites ph\u00e4notypisches Spektrum. Aktuell gibt es zwar keine therapeutische M\u00f6glichkeit zur Behandlung der Netzhautdystrophie, aber eine zugelassene Therapie zur Behandlung der hyperphagiebedingten Adipositas. BBS-Patienten sollten zus\u00e4tzlich zur Prim\u00e4rversorgung in spezialisierten Zentren interdisziplin\u00e4r betreut werden. Seit 2026 werden Patienten mit\n                    <jats:italic>BBS1<\/jats:italic>\n                    -assoziierter Netzhautdystrophie in eine okul\u00e4re Gentherapiestudie eingeschlossen.\n                  <\/jats:p>","DOI":"10.1007\/s00347-026-02539-0","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T14:14:42Z","timestamp":1792592082000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Das Bardet-Biedl-Syndrom\u00a0\u2013 Diagnose, Versorgung und Therapieans\u00e4tze","Bardet-Biedl syndrome\u2014diagnosis, care and treatment approaches"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1906-8681","authenticated-orcid":false,"given":"Laura","family":"K\u00fchlewein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Kellner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert","family":"J\u00e4gle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"Hufendiek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian-Joachim","family":"Gerhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Lentzsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rupert W.","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinodh","family":"Kakkassery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Kohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Metin","family":"Cetiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7699-2112","authenticated-orcid":false,"given":"Johannes","family":"Birtel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,21]]},"reference":[{"key":"2539_CR1","doi-asserted-by":"publisher","first-page":"5004","DOI":"10.1167\/iovs.06-0517","volume":"47","author":"AA Azari","year":"2006","unstructured":"Azari\u00a0AA, Aleman\u00a0TS, Cideciyan\u00a0AV et\u00a0al (2006) Retinal disease expression in Bardet-Biedl syndrome\u20111 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. 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Reisekosten: Novartis, Rhythm. U.\u00a0Kellner Beratungshonorare\/Zahlungen an Institution: Apellis Germany , Astellas Pharma , Bayer Vital , Chiesi , Novartis , Roche , Rhythm Pharmaceuticals , Sandoz DE\/Hexal . Honorare f\u00fcr Vortr\u00e4ge (Zahlungen an Institution): AbbVie , Apellis Germany , Bayer Vital , Heidelberg Engineering , Novartis . Leitungs\u2011\/Treuhandfunktionen (unbezahlt): Vereinigung Operierender Augen\u00e4rzte Nordrhein (Chairman), Ocunet (Board Member), Pro Retina Germany e.\u202fV. (Scientific Board Member und Chairman of the Clinical Advisory Board), Deutsche Ophthalmologische Gesellschaft (Leitlinienentwicklung). Weitere Interessen: UDRBK GmbH (Chairman); bis 2025 Anteilseigner einer ophthalmologischen Klinik. H.\u00a0J\u00e4gle: Unterst\u00fctzung f\u00fcr das Manuskript: Rhythm (Consultant, personal). Beratungshonorare: Rhythm (personal). K.\u00a0Hufendiek: None relevant to this manuscript. M.-J.\u00a0Gerhardt: Consulting fees: Opus Genetics and VeonGen Therapeutics (formerly ViGeneron) with all fees being paid to LMU Eye Hospital to support research. Speaker fees: Bayer, Novartis and Roche. A.M.\u00a0Lentzsch: Honorare: Novartis Pharma , Bayer Vital . Reisekosten: AbbVie . Advisory Boards: Rhythm Pharmaceuticals , Janssen Cilag. R.W.\u00a0Strauss: Consulting fees: Rhythm Pharmaceuticals . Support for attending meetings and\/or travel: Rhythm Pharmaceuticals . V.\u00a0Kakkassery: Unterst\u00fctzung f\u00fcr das Manuskript: Rhythm , Rhythm (Bereitstellung von Studienmaterial). Beratungshonorare: Rhythm (Advisory Board). Honorare: Rhythm . Gutachtert\u00e4tigkeit: Rhythm . Reisekosten: Rhythm. Advisory Board: Rhythm. S.\u00a0Kohl: Grants\/Vertr\u00e4ge: DFG, EU Horizon MSCA 2022 DN. Patente: PCT\/EP2023\/052609 (pending). M.\u00a0Cetiner: Unterst\u00fctzung f\u00fcr das Manuskript: Rhythm Pharmaceuticals . Grants\/Vertr\u00e4ge: Rhythm Pharmaceuticals , BMBF . Beratungshonorare: Rhythm Pharmaceuticals. Honorare: Rhythm Pharmaceuticals, Desitin, Alexion. Reisekosten\/Kongressgeb\u00fchren: Rhythm Pharmaceuticals, Desitin, Alexion. Advisory Board: Rhythm Pharmaceuticals. J.\u00a0Birtel: Honorare f\u00fcr Vortr\u00e4ge\/Pr\u00e4sentationen: Rhythm Pharmaceuticals.","order":1,"name":"Ethics","label":"Interessenkonflikt","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}},{"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.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Einhaltung ethischer Richtlinien"}}]}}