Clinical Characteristics of m.11778G>A Leber Hereditary Optic Neuropathy with Favorable Outcomes.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-05-01 Epub Date: 2024-02-29 DOI:10.1080/08820538.2024.2323114

Ungsoo Samuel Kim, Jeong Seop Yun

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Abstract

The prognosis of 11,778 mitochondrial mutations in Leber hereditary optic neuropathy (LHON) is poor. Patients with favorable outcomes (visual acuity better than 20/100) who could be observed for more than 6 months were analyzed. Among 74 patients (57 male, 17 female), 6 (8.1%) showed improvement in visual acuity of 20/100 or higher. The patients with favorable outcomes have better visual acuity at nadir (logMAR 0.98 ± 0.69 in the favorable patients and logMAR 2.32 ± 0.93 in the unfavorable patients, p = .003). Among the favorable group, four patients (36, 32, 19, and 7 years of age at onset) took idebenone within 6 months of onset. However, fifty-one percent of the patients with unfavorable outcomes took idebenone (p = .008). Although the age at onset in the favorable patients is relatively younger than that of the unfavorable patients (20.3 ± 10.8 versus 28.8 ± 12.8 years), a significant difference was not found (p = .138). In conclusion, better visual acuity in nadir and administration of idebenone may affect vision recovery.

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m.11778G>A Leber 遗传性视神经病变的临床特征及良好预后

11,778 例线粒体突变导致的 Leber 遗传性视神经病变（LHON）预后不良。研究人员分析了可观察 6 个月以上、预后良好（视力优于 20/100）的患者。在 74 名患者（57 名男性，17 名女性）中，有 6 人（8.1%）的视力提高到了 20/100 或更高。疗效较好的患者在最低点的视力较好（疗效较好的患者的对数视力指数为 0.98 ± 0.69，疗效较差的患者的对数视力指数为 2.32 ± 0.93，P = .003）。在获益组中，有四名患者（发病时年龄分别为 36 岁、32 岁、19 岁和 7 岁）在发病后 6 个月内服用了依地苯酮。然而，51% 的不良预后患者服用了依地苯醌（P = .008）。虽然治疗效果好的患者的发病年龄比治疗效果差的患者相对年轻（20.3 ± 10.8 岁对 28.8 ± 12.8 岁），但并未发现显著差异（p = .138）。总之，较好的最低视力和服用依地美酮可能会影响视力恢复。

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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.