{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:46:41Z","timestamp":1773272801827,"version":"3.50.1"},"reference-count":11,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2018,7,27]],"date-time":"2018-07-27T00:00:00Z","timestamp":1532649600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,7,27]],"date-time":"2018-07-27T00:00:00Z","timestamp":1532649600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmologica"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Purpose:&lt;\/i&gt;&lt;\/b&gt; The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 \u00b1 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the &lt;i&gt;WFS1&lt;\/i&gt; gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3\u201322). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8\u201335). The best-corrected visual acuity ranged from counting fingers to 20\/50. &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.<\/jats:p>","DOI":"10.1159\/000490535","type":"journal-article","created":{"date-parts":[[2018,7,27]],"date-time":"2018-07-27T21:01:23Z","timestamp":1532725283000},"page":"116-119","source":"Crossref","is-referenced-by-count":13,"title":["Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases"],"prefix":"10.1159","volume":"241","author":[{"given":"Andreia","family":"Soares","sequence":"first","affiliation":[]},{"given":"\u00c1gata","family":"Mota","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"Fonseca","sequence":"additional","affiliation":[]},{"given":"Olinda","family":"Faria","sequence":"additional","affiliation":[]},{"given":"Elisete","family":"Brand\u00e3o","sequence":"additional","affiliation":[]},{"given":"Fernando","family":"Falc\u00e3o\u00a0dos\u00a0Reis","sequence":"additional","affiliation":[]},{"given":"Rita","family":"Gentil","sequence":"additional","affiliation":[]},{"given":"Sandra","family":"Guimar\u00e3es","sequence":"additional","affiliation":[]},{"given":"Lu\u00eds","family":"Mendon\u00e7a","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2018,7,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.838"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01522.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s12019-007-0007-z"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92473-6"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-015-0702-6"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-27302006000500003"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10258"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.joco.2015.11.003"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4103\/2348-3334.183753"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.4103\/2230-8210.117218"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2009.22.1.3"}],"container-title":["Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/490535","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/490535","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:40:03Z","timestamp":1745426403000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000490535"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,27]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,1,25]]},"published-print":{"date-parts":[[2019,1,31]]}},"URL":"https:\/\/doi.org\/10.1159\/000490535","archive":["Portico"],"relation":{},"ISSN":["0030-3755","1423-0267"],"issn-type":[{"value":"0030-3755","type":"print"},{"value":"1423-0267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,27]]}}}