Promie R Faruque, Baichun Hou, Jin Kyun Oh, Stephen H Tsang
{"title":"A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.","authors":"Promie R Faruque, Baichun Hou, Jin Kyun Oh, Stephen H Tsang","doi":"10.3928/23258160-20240717-01","DOIUrl":null,"url":null,"abstract":"<p><p>Mutations in CEP78 lead to abnormal production of cilia and have previously been identified to cause cone-rod dystrophy (CRD) with progressive sensorineural hearing loss. The authors describe a case of cone dystrophy (CD) with sensorineural hearing loss in a variant that had previously been reported to be of unknown significance and associated with CRD only. This report corroborates the pathogenicity of this variant and highlights that different phenotypes may be associated with one genotype. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2024;55:742-746.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":" ","pages":"742-746"},"PeriodicalIF":0.9000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic surgery, lasers & imaging retina","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3928/23258160-20240717-01","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/1 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Mutations in CEP78 lead to abnormal production of cilia and have previously been identified to cause cone-rod dystrophy (CRD) with progressive sensorineural hearing loss. The authors describe a case of cone dystrophy (CD) with sensorineural hearing loss in a variant that had previously been reported to be of unknown significance and associated with CRD only. This report corroborates the pathogenicity of this variant and highlights that different phenotypes may be associated with one genotype. [Ophthalmic Surg Lasers Imaging Retina 2024;55:742-746.].
期刊介绍：
OSLI Retina focuses exclusively on retinal diseases, surgery and pharmacotherapy. OSLI Retina will offer an expedited submission to publication effort of peer-reviewed clinical science and case report articles. The front of the journal offers practical clinical and practice management features and columns specific to retina specialists. In sum, readers will find important peer-reviewed retina articles and the latest findings in techniques and science, as well as informative business and practice management features in one journal.
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
