{"title":"保留视网膜病变- bardet-Biedl综合征的不寻常变异","authors":"S. Murthy, Keerthi Gunda","doi":"10.4103/NJO.NJO_26_17","DOIUrl":null,"url":null,"abstract":"Bardet–Biedl syndrome (BBS) is a genetic disorder characterized by retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. Retinal dystrophy in the form of rod-cone dystrophy is the most common diagnostic handle prompting investigation for BBS. We report a novel case of rod sparing or a cone-selective variant of retinopathy in BBS. To the best of our knowledge, this is the first report of such a case from India.","PeriodicalId":376849,"journal":{"name":"Nigerian Journal of Ophthalmology","volume":"4 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Rod-sparing retinopathy – Unusual variant in bardet–Biedl syndrome\",\"authors\":\"S. Murthy, Keerthi Gunda\",\"doi\":\"10.4103/NJO.NJO_26_17\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Bardet–Biedl syndrome (BBS) is a genetic disorder characterized by retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. Retinal dystrophy in the form of rod-cone dystrophy is the most common diagnostic handle prompting investigation for BBS. We report a novel case of rod sparing or a cone-selective variant of retinopathy in BBS. To the best of our knowledge, this is the first report of such a case from India.\",\"PeriodicalId\":376849,\"journal\":{\"name\":\"Nigerian Journal of Ophthalmology\",\"volume\":\"4 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nigerian Journal of Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/NJO.NJO_26_17\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nigerian Journal of Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/NJO.NJO_26_17","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Rod-sparing retinopathy – Unusual variant in bardet–Biedl syndrome
Bardet–Biedl syndrome (BBS) is a genetic disorder characterized by retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. Retinal dystrophy in the form of rod-cone dystrophy is the most common diagnostic handle prompting investigation for BBS. We report a novel case of rod sparing or a cone-selective variant of retinopathy in BBS. To the best of our knowledge, this is the first report of such a case from India.
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