Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-01 DOI:10.1016/j.jaapos.2024.104001

Rashmi Krishnamurthy DNB , Sirisha Senthil FRCS , Jeyapoorani Balasubramanian PhD , Muralidhar Ramappa MD

引用次数: 0

Abstract

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.

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脆性角膜综合征 2 型先天性青光眼伴有 PRDM5 的新型突变。

脆性角膜综合征 2 型与角膜变薄、关节活动过度、牙齿和骨骼问题、骨膜脆性和耳聋有关。我们报告了一名患有新型 PRDM5 基因突变的患者的先天性青光眼与 2 型脆性角膜综合征和角膜病的罕见关联。我们的病例强调了基因检测对早期临床诊断和定制手术方法的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.