{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T13:45:52Z","timestamp":1789825552488,"version":"4.0.1"},"reference-count":38,"publisher":"Georg Thieme Verlag KG","issue":"09","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Monbl Augenheilkd"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Zusammenfassung Deutsch<\/jats:title>\n                  <jats:p>Makul\u00e4re Teleangiektasien Typ 2 (MacTel Typ 2) ist eine seltene, chronisch neurodegenerative Makulaerkrankung, die typischerweise bilateral in der zweiten Lebensh\u00e4lfte auftritt. Betroffene klagen fr\u00fch \u00fcber parazentrale Skotome und Leseprobleme. Im Verlauf nehmen Alltagseinschr\u00e4nkungen progredient zu.<\/jats:p>\n                  <jats:p>Obwohl die makul\u00e4ren Gef\u00e4\u00dfver\u00e4nderungen namensgebend sind, gilt MacTel Typ 2 heute als prim\u00e4r neurodegenerative Erkrankung mit sekund\u00e4ren vaskul\u00e4ren Ver\u00e4nderungen. In wenigen Patienten (&lt;5%) kann die Erkrankung kausal auf Mutationen im Serin-Stoffwechsel zur\u00fcckgef\u00fchrt werden. Gendefekte in der Serinbiosynthese sind in vielen F\u00e4llen eher als eine Art Risikofaktor zu verstehen, ohne dass diese Genomver\u00e4nderungen bei jedem Betroffenen vorliegen m\u00fcssen. Weiterhin liegt bei einem \u00fcberdurchschnittlich gro\u00dfen Anteil von MacTel-Patienten ein Diabetes mellitus Typ 2 vor, was den Einfluss eines ver\u00e4nderten Stoffwechsels auf die Pathogenese unterstreicht.<\/jats:p>\n                  <jats:p>Pathomechanistisch f\u00fchren nach aktuellem Wissensstand erniedrigte Serinspiegel zu einer fehlgeleiteten Sphingolipidsynthese mit Akkumulation neurotoxischer Deoxysphingolipide. Diese induzieren eine Degeneration von M\u00fcllerzellen, Pigmentepithel und Photorezeptoren, was in einem Zusammenbruch der Blut-Retina-Schranke und ggf. sekund\u00e4ren vaskul\u00e4ren Ver\u00e4nderungen m\u00fcndet. Die Neurodegeneration bleibt dabei auf ein umschriebenes Areal um die Fovea herum beschr\u00e4nkt, der MacTel-Zone, wobei sich morphologischen Ver\u00e4nderungen immer zun\u00e4chst temporal der Fovea manifestieren.<\/jats:p>\n                  <jats:p>Therapeutisch ist derzeit in Europa ausschlie\u00dflich die Behandlung der sp\u00e4ten vaskul\u00e4ren Komplikation, einer sekund\u00e4ren chorioidalen Neovaskularisation, mittels intravitrealer Anti-VEGF-Therapie etabliert. Ein neuroprotektiver Therapie-Ansatz, bei dem ein neuartiges zellbasiertes Depotsystem kontinuierlich Ciliary Neurotrophic Factor (CNTF) abgibt und zu einer Verlangsamung der Photorezeptordegeneration f\u00fchrt ist aktuell nur in den USA zugelassen. Erg\u00e4nzende Strategien zur Verlangsamung der zugrundeliegenden Krankheitsprogression sind dringend erforderlich. Dabei f\u00fchrten Therapieversuche mit einer oralen Supplementierung von Serin im Tiermodel zu einer verlangsamten Neurodegeneration. Am Menschen laufen klinische Phase-2 und -3 Studien (ClinicalTrials.gov: NCT04907084).<\/jats:p>","DOI":"10.1055\/a-2936-0118","type":"journal-article","created":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T23:11:15Z","timestamp":1787872275000},"page":"894-900","source":"Crossref","is-referenced-by-count":1,"title":["Makul\u00e4re Teleangiektasien Typ 2: Pathogenese \u2013 Zusammenspiel von Neurodegeneration und Stoffwechselver\u00e4nderungen"],"prefix":"10.1055","volume":"243","author":[{"given":"Malte","family":"Jung","sequence":"additional","affiliation":[{"name":"Albert-Ludwigs-Universitat Freiburg, Baden-W\u00fcrttemberg, Germany","place":["Freiburg im Breisgau"],"department":["Klinik f\u00fcr Augenheilkunde"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2130-3939","authenticated-orcid":false,"given":"Felicitas","family":"Bucher","sequence":"additional","affiliation":[{"name":"Albert-Ludwigs-Universitat Freiburg, 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