{"title":"罕见的Wolfram综合症","authors":"A. Chauhan, S. Sharma, Ranesh Kumar","doi":"10.4103/2347-5617.179366","DOIUrl":null,"url":null,"abstract":"A 19-year-old male with type 1 diabetes mellitus and juvenile rheumatoid arthritis (JRA) presented to a secondary care institute with painless, progressive diminution of vision. Ocular examination revealed bilateral optic atrophy. A suspicion of Wolfram syndrome (WFS) led to a battery of investigations for known association of many entities with this syndrome. Positive associations with this syndrome such as short stature, hydronephrosis, seizures, and color vision deficiency were present in our case. To the best of our knowledge and after undergoing extensive literature search on the internet, this is probably the first reported case of WFS with JRA and without diabetes insipidus as a whole.","PeriodicalId":201997,"journal":{"name":"Egyptian Retina Journal","volume":"17 12","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":"{\"title\":\"A rare case of Wolfram syndrome\",\"authors\":\"A. Chauhan, S. Sharma, Ranesh Kumar\",\"doi\":\"10.4103/2347-5617.179366\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A 19-year-old male with type 1 diabetes mellitus and juvenile rheumatoid arthritis (JRA) presented to a secondary care institute with painless, progressive diminution of vision. Ocular examination revealed bilateral optic atrophy. A suspicion of Wolfram syndrome (WFS) led to a battery of investigations for known association of many entities with this syndrome. Positive associations with this syndrome such as short stature, hydronephrosis, seizures, and color vision deficiency were present in our case. To the best of our knowledge and after undergoing extensive literature search on the internet, this is probably the first reported case of WFS with JRA and without diabetes insipidus as a whole.\",\"PeriodicalId\":201997,\"journal\":{\"name\":\"Egyptian Retina Journal\",\"volume\":\"17 12\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Egyptian Retina Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/2347-5617.179366\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Retina Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/2347-5617.179366","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A 19-year-old male with type 1 diabetes mellitus and juvenile rheumatoid arthritis (JRA) presented to a secondary care institute with painless, progressive diminution of vision. Ocular examination revealed bilateral optic atrophy. A suspicion of Wolfram syndrome (WFS) led to a battery of investigations for known association of many entities with this syndrome. Positive associations with this syndrome such as short stature, hydronephrosis, seizures, and color vision deficiency were present in our case. To the best of our knowledge and after undergoing extensive literature search on the internet, this is probably the first reported case of WFS with JRA and without diabetes insipidus as a whole.