遗传性粘液上皮发育不良眼部受累的长期随访。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-01 DOI:10.1016/j.jaapos.2024.103997

Sepehr Feizi MD, MSc , Mohammadreza Tahavvori MD , Seyed-Bagher Hosseini MD , Goldis Espandar MD , Peyman Mohammadi Torbati MD , Hamed Esfandiari MD

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引用次数: 0

摘要

一名11个月大的非瘢痕性脱发男孩因4个月大时畏光而被转诊至眼科进行评估。全基因组测序发现，SREBF1基因存在杂合突变，确诊为遗传性粘液上皮发育不良。眼部检查发现睑板腺功能障碍、角膜表层血管扩张和混浊。角膜巩膜缘的印迹细胞学检查发现了非典型上皮细胞。患者接受了睑板腺功能障碍、干眼症和眼表炎症的治疗。经过适当的治疗和 7 年的密切随访，角膜混浊得到了很大改善。

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Long-term follow-up of ocular involvement in hereditary mucoepithelial dysplasia

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.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

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.