Malarvizhi Raman, Latha Thiagarajan, S. Sheela, Prashanth Ravi
{"title":"二合一:软骨发育不全的兄弟姐妹眼部异常","authors":"Malarvizhi Raman, Latha Thiagarajan, S. Sheela, Prashanth Ravi","doi":"10.4103/tjosr.tjosr_81_22","DOIUrl":null,"url":null,"abstract":"Ocular abnormalities are not so uncommon in achondroplasia. Here we report two cases of achondroplasia from the same family where one patient was diagnosed with both eyes Juvenile open-angle glaucoma (JOAG) and treated surgically with trabeculectomy and the other with an isolated racemose haemangioma of the left eye–Wyburn–Mason syndrome. This by far is the first incidence of JOAG as well as Wyburn–Mason syndrome reported in achondroplasia.","PeriodicalId":34180,"journal":{"name":"TNOA Journal of Ophthalmic Science and Research","volume":"61 1","pages":"228 - 230"},"PeriodicalIF":0.0000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Two in one: Ocular abnormalities in siblings with achondroplasia\",\"authors\":\"Malarvizhi Raman, Latha Thiagarajan, S. Sheela, Prashanth Ravi\",\"doi\":\"10.4103/tjosr.tjosr_81_22\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Ocular abnormalities are not so uncommon in achondroplasia. Here we report two cases of achondroplasia from the same family where one patient was diagnosed with both eyes Juvenile open-angle glaucoma (JOAG) and treated surgically with trabeculectomy and the other with an isolated racemose haemangioma of the left eye–Wyburn–Mason syndrome. This by far is the first incidence of JOAG as well as Wyburn–Mason syndrome reported in achondroplasia.\",\"PeriodicalId\":34180,\"journal\":{\"name\":\"TNOA Journal of Ophthalmic Science and Research\",\"volume\":\"61 1\",\"pages\":\"228 - 230\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"TNOA Journal of Ophthalmic Science and Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/tjosr.tjosr_81_22\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"TNOA Journal of Ophthalmic Science and Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/tjosr.tjosr_81_22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Two in one: Ocular abnormalities in siblings with achondroplasia
Ocular abnormalities are not so uncommon in achondroplasia. Here we report two cases of achondroplasia from the same family where one patient was diagnosed with both eyes Juvenile open-angle glaucoma (JOAG) and treated surgically with trabeculectomy and the other with an isolated racemose haemangioma of the left eye–Wyburn–Mason syndrome. This by far is the first incidence of JOAG as well as Wyburn–Mason syndrome reported in achondroplasia.