{"title":"Long-term follow-up of ocular involvement in hereditary mucoepithelial dysplasia","authors":"Sepehr Feizi MD, MSc , Mohammadreza Tahavvori MD , Seyed-Bagher Hosseini MD , Goldis Espandar MD , Peyman Mohammadi Torbati MD , Hamed Esfandiari MD","doi":"10.1016/j.jaapos.2024.103997","DOIUrl":null,"url":null,"abstract":"<div><div>An 11-month-old boy with nonscarring alopecia was referred for ophthalmic evaluation because of photophobia from the age of 4 months. Whole-exome sequencing identified a heterozygous mutation in the <em>SREBF1</em> gene, confirming the diagnosis of hereditary mucoepithelial dysplasia. Ocular examination revealed meibomian gland dysfunction and superficial corneal vascularization and opacity. Impression cytology of the sclerocorneal limbus revealed atypical epithelial cells. The patient received treatment for meibomian gland dysfunction, dry eye, and ocular surface inflammation. With appropriate management and close follow-up over 7 years, corneal opacity improved greatly.</div></div>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1091853124002945","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}
引用次数: 0
Abstract
An 11-month-old boy with nonscarring alopecia was referred for ophthalmic evaluation because of photophobia from the age of 4 months. Whole-exome sequencing identified a heterozygous mutation in the SREBF1 gene, confirming the diagnosis of hereditary mucoepithelial dysplasia. Ocular examination revealed meibomian gland dysfunction and superficial corneal vascularization and opacity. Impression cytology of the sclerocorneal limbus revealed atypical epithelial cells. The patient received treatment for meibomian gland dysfunction, dry eye, and ocular surface inflammation. With appropriate management and close follow-up over 7 years, corneal opacity improved greatly.
期刊介绍：
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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