{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:56:17Z","timestamp":1777942577083,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2010,3,30]],"date-time":"2010-03-30T00:00:00Z","timestamp":1269907200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2010,3,30]],"date-time":"2010-03-30T00:00:00Z","timestamp":1269907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmologica"],"abstract":"<jats:p>A 20-year-old man with the characteristic findings of infantile onset Kearns syndrome is described. Morphological and biochemical investigations proved a mitochondrial disease which we believe to be the cause of the symptoms in various organs. We assume an autosomal-dominant inheritance, the marker sign of which is blepharoptosis in several family members. Characteristic clinical, morphological and biochemical findings, combined with an autosomal-dominant inheritance with very variable expression, mark the Kearns syndrome as an individual disease, not as a symptom complex (syndrome). Kearns disease can be divided into three forms \u2013 an infantile form (\u2018Kearns-Sayre syndrome\u2019) with early onset, rapid progression, multisystemic involvement and a severe course; and a juvenile and an adult form with onset in the second, respectively third (or later) decades with a generally slower and more benign course and less widespread expression in various organ systems. Furthermore, the occurrence of a curious orthoptic abnormality is described, indicating one of the possible ways to avoid diplopia in chronic progressive external ophthalmoplegia: the coexistence of normal and gliding abnormal retinal correspondence.<\/jats:p>","DOI":"10.1159\/000309183","type":"journal-article","created":{"date-parts":[[2010,3,31]],"date-time":"2010-03-31T05:08:54Z","timestamp":1270012134000},"page":"40-50","source":"Crossref","is-referenced-by-count":11,"title":["Kearns Syndrome or Kearns Disease"],"prefix":"10.1159","author":[{"given":"L.A.K.","family":"Bastiaensen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.L.H.","family":"Notermans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.H.","family":"Ramaekers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.J.","family":"van Dijke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.M.G.","family":"Joosten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.H.J.","family":"Jaspar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.","family":"Stadhouders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.T.E.","family":"Beljaars","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,3,30]]},"container-title":["Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000309183","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T07:00:35Z","timestamp":1777705235000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000309183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,30]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000309183","archive":["Portico"],"relation":{},"ISSN":["0030-3755","1423-0267"],"issn-type":[{"value":"0030-3755","type":"print"},{"value":"1423-0267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,30]]}}}