二合一:软骨发育不全的兄弟姐妹眼部异常

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}
引用次数: 0

摘要

眼畸形在软骨发育不全中并不罕见。在这里,我们报告了来自同一家族的两例软骨发育不全病例,其中一名患者被诊断为双眼青少年开角型青光眼(JOAG),并通过小梁切除术进行了手术治疗,另一名患者患有左眼孤立的外消旋血管瘤——Wyburn-Mason综合征。到目前为止,这是软骨发育不全中首次报道JOAG和Wyburn-Mason综合征的发病率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
65
审稿时长
18 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信