{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T19:56:19Z","timestamp":1777578979640,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2011,5,24]],"date-time":"2011-05-24T00:00:00Z","timestamp":1306195200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>Wolfram syndrome (WS) or diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) (OMIM 222300) is an inherited neurodegenerative disease characterized by diabetes mellitus and optic atrophy as the 2 major criteria, followed later in life by deafness, diabetes insipidus, and various signs of neurologic impairment. The presence of a cataract has been variably mentioned in WS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>Two members of a family had thorough ophthalmic examination and their DNA was screened for mutations in mitochondrial DNA, WFS1, OPA1, and OPA3 genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We report a patient who first had surgery for bilateral cataract at age 5 and who subsequently presented typical signs of WS, i.e., diabetes mellitus, optic atrophy with reduced visual acuity at 20\/400 on both eyes at age 22, and mild deafness. The patient was found to be a compound heterozygote for 2 truncating mutations in WFS1, the major WS gene. She carried the previously reported c.1231_1233 delCT and a novel c.2431_2465dup35 mutation. She also was heterozygote for a novel OPA1 sequence variant, c.929A&gt;G in exon 9, whose pathogenicity remains uncertain. The patient's mother was a heterozygous carrier of the c.2431_2465dup35 mutation. She did not have diabetes mellitus or optic atrophy but had bilateral polar cataract. She did not carry the OPA1 sequence variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Cataract could be a marker for the WFS1 heterozygosity in this family, namely the c.2431_2465dup35 mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.5301\/ejo.2011.8370","type":"journal-article","created":{"date-parts":[[2011,5,24]],"date-time":"2011-05-24T07:24:06Z","timestamp":1306221846000},"page":"254-258","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Cataract as a Phenotypic Marker for a Mutation in\n                    <sup>WFS1<\/sup>\n                    , the Wolfram Syndrome Gene"],"prefix":"10.1177","volume":"22","author":[{"given":"Salah Mohamed","family":"Cherif Titah","sequence":"first","affiliation":[{"name":"CHRU Montpellier, Centre de R\u00e9f\u00e9rence Genetic Sensory Diseases, Montpellier - France"},{"name":"INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier - France"},{"name":"Universit\u00e9 Montpellier 1, Montpellier - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Meunier","sequence":"additional","affiliation":[{"name":"CHRU Montpellier, Centre de R\u00e9f\u00e9rence Genetic Sensory Diseases, Montpellier - France"},{"name":"INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier - France"},{"name":"Universit\u00e9 Montpellier 1, Montpellier - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Blanchet","sequence":"additional","affiliation":[{"name":"CHRU Montpellier, Centre de R\u00e9f\u00e9rence Genetic Sensory Diseases, Montpellier - France"},{"name":"INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier - France"},{"name":"Universit\u00e9 Montpellier 1, Montpellier - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Severine","family":"Lopez","sequence":"additional","affiliation":[{"name":"CHRU Montpellier, Centre de R\u00e9f\u00e9rence Genetic Sensory Diseases, Montpellier - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerard","family":"Rondouin","sequence":"additional","affiliation":[{"name":"CHRU Montpellier, Centre de R\u00e9f\u00e9rence Genetic Sensory Diseases, Montpellier - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[{"name":"INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier - France"},{"name":"Universit\u00e9 Montpellier 1, Montpellier - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Amati-Bonneau","sequence":"additional","affiliation":[{"name":"CHRU Angers, D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, Angers - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Reynier","sequence":"additional","affiliation":[{"name":"CHRU Angers, D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, Angers - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronique","family":"Paquis-Flucklinger","sequence":"additional","affiliation":[{"name":"UMR 6267\/INSERM U998\/UNS, Medical School, Nice - France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian P.","family":"Hamel","sequence":"additional","affiliation":[{"name":"CHRU Montpellier, Centre de R\u00e9f\u00e9rence Genetic Sensory Diseases, Montpellier - France"},{"name":"INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier - France"},{"name":"Universit\u00e9 Montpellier 1, Montpellier - France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,5,24]]},"reference":[{"key":"bibr1-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1977.tb15069.x"},{"key":"bibr2-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92473-6"},{"key":"bibr3-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.3.190"},{"key":"bibr4-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1038\/2441"},{"key":"bibr5-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9300"},{"key":"bibr6-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31809"},{"key":"bibr7-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.5.477"},{"key":"bibr8-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2009.05.007"},{"key":"bibr9-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.838"},{"key":"bibr10-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1177\/112067210201200202"},{"key":"bibr11-EJO.2011.8370","first-page":"617","volume":"11","author":"Niemeyer G.","year":"1972","journal-title":"Invest Ophthalmol"},{"key":"bibr12-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-4182(06)80064-5"},{"key":"bibr13-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0420.2000.078004480.x"},{"key":"bibr14-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0420.2000.078001118.x"},{"key":"bibr15-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.e37"},{"key":"bibr16-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201491"},{"key":"bibr17-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2010.516056"},{"key":"bibr18-EJO.2011.8370","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016576"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.5301\/EJO.2011.8370","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.5301\/EJO.2011.8370","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.5301\/EJO.2011.8370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:36:20Z","timestamp":1777404980000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.5301\/EJO.2011.8370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,24]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.5301\/EJO.2011.8370"],"URL":"https:\/\/doi.org\/10.5301\/ejo.2011.8370","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,24]]}}}