{"title":"脆性角膜综合征 2 型先天性青光眼伴有 PRDM5 的新型突变。","authors":"Rashmi Krishnamurthy, Sirisha Senthil, Jeyapoorani Balasubramanian, Muralidhar Ramappa","doi":"10.1016/j.jaapos.2024.104001","DOIUrl":null,"url":null,"abstract":"<p><p>Brittle cornea syndrome type 2 is associated with corneal thinning, joint hypermobility, dental and skeletal issues, osteal fragility, and deafness. We present a rare association of congenital glaucoma with brittle cornea syndrome type 2 and keratoglobus in a patient with a novel PRDM5 gene mutation. Our case underscores the importance of genetic testing for early clinical diagnosis and tailored surgical approaches.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5.\",\"authors\":\"Rashmi Krishnamurthy, Sirisha Senthil, Jeyapoorani Balasubramanian, Muralidhar Ramappa\",\"doi\":\"10.1016/j.jaapos.2024.104001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Brittle cornea syndrome type 2 is associated with corneal thinning, joint hypermobility, dental and skeletal issues, osteal fragility, and deafness. We present a rare association of congenital glaucoma with brittle cornea syndrome type 2 and keratoglobus in a patient with a novel PRDM5 gene mutation. Our case underscores the importance of genetic testing for early clinical diagnosis and tailored surgical approaches.</p>\",\"PeriodicalId\":50261,\"journal\":{\"name\":\"Journal of Aapos\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-09-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Aapos\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.jaapos.2024.104001\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Aapos","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.jaapos.2024.104001","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5.
Brittle cornea syndrome type 2 is associated with corneal thinning, joint hypermobility, dental and skeletal issues, osteal fragility, and deafness. We present a rare association of congenital glaucoma with brittle cornea syndrome type 2 and keratoglobus in a patient with a novel PRDM5 gene mutation. Our case underscores the importance of genetic testing for early clinical diagnosis and tailored surgical approaches.
期刊介绍：
Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
