兰姆-沙弗综合征的眼科特征：病例系列。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-06-01 DOI:10.1016/j.jaapos.2024.103919

Yoav Glidai MD , Moe H. Aung MD, PhD , Jane Edmond MD , Linda Lawrence MD , G. Vike Vicente MD , Sylvia R. Kodsi MD

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引用次数: 0

摘要

兰姆-沙弗综合征（Lamb-Shaffer Syndrome，LSS）是一种罕见的神经发育障碍性疾病，全球仅有不到 100 人通过基因诊断确诊。我们介绍了 6 例 LSS 儿童患者的系列病例，并描述了其眼部表现。5 名患者均患有斜视，其中外斜视最为常见。所有患者都有视神经异常，包括苍白（4 例）、发育不全（2 例）和外观异常（1 例），其中一名患者的视网膜神经纤维层变薄。其他眼科疾病包括眼睑下垂（1 例）、鼻泪管阻塞（1 例）和眼球震颤（2 例）。

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Ophthalmic features of Lamb-Shaffer syndrome: a case series

Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2).

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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.