[Leber's 遗传性视神经病变]。

Q4 Medicine Clinical Neurology Pub Date : 2024-05-24 Epub Date: 2024-04-20 DOI:10.5692/clinicalneurol.cn-001924
Yasuyuki Takai, Akiko Yamagami, Hitoshi Ishikawa
{"title":"[Leber's 遗传性视神经病变]。","authors":"Yasuyuki Takai, Akiko Yamagami, Hitoshi Ishikawa","doi":"10.5692/clinicalneurol.cn-001924","DOIUrl":null,"url":null,"abstract":"<p><p>Leber's hereditary optic atrophy (LHON) is a genetic optic neuropathy that is more prevalent in young males but can occur from childhood to old age. The primary cause is mitochondrial genetic mutations, which are associated with dysfunction of mitochondrial electron transport chain complex I. It manifests as acute to subacute visual impairment, often starting unilaterally but progressing to involve both eyes within weeks to months. Visual loss is severe, with many patients having corrected visual acuity below 0.1. The differential diagnosis of optic neuritis is essential, and assessments such as pupillary light reflex, fluorescein fundus angiography, and magnetic resonance imaging can be useful for differentiation. LHON should be considered as one of the differential diagnoses for optic neuritis, and collaboration between neurologists and ophthalmologists is crucial for accurate diagnosis and appropriate treatment.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"326-332"},"PeriodicalIF":0.0000,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Leber's hereditary optic neuropathy].\",\"authors\":\"Yasuyuki Takai, Akiko Yamagami, Hitoshi Ishikawa\",\"doi\":\"10.5692/clinicalneurol.cn-001924\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Leber's hereditary optic atrophy (LHON) is a genetic optic neuropathy that is more prevalent in young males but can occur from childhood to old age. The primary cause is mitochondrial genetic mutations, which are associated with dysfunction of mitochondrial electron transport chain complex I. It manifests as acute to subacute visual impairment, often starting unilaterally but progressing to involve both eyes within weeks to months. Visual loss is severe, with many patients having corrected visual acuity below 0.1. The differential diagnosis of optic neuritis is essential, and assessments such as pupillary light reflex, fluorescein fundus angiography, and magnetic resonance imaging can be useful for differentiation. LHON should be considered as one of the differential diagnoses for optic neuritis, and collaboration between neurologists and ophthalmologists is crucial for accurate diagnosis and appropriate treatment.</p>\",\"PeriodicalId\":39292,\"journal\":{\"name\":\"Clinical Neurology\",\"volume\":\" \",\"pages\":\"326-332\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5692/clinicalneurol.cn-001924\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/4/20 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5692/clinicalneurol.cn-001924","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/20 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

勒伯遗传性视神经萎缩症(LHON)是一种遗传性视神经病变,多发于年轻男性,但从儿童到老年均可发病。其主要病因是线粒体基因突变,与线粒体电子传递链复合物 I 的功能障碍有关。该病表现为急性至亚急性视力障碍,通常从单侧开始,但会在数周至数月内发展为双眼受累。视力损失严重,许多患者的矫正视力低于 0.1。视神经炎的鉴别诊断至关重要,瞳孔光反射、荧光素眼底血管造影和磁共振成像等评估有助于鉴别。LHON 应被视为视神经炎的鉴别诊断之一,神经科医生和眼科医生之间的合作对于准确诊断和适当治疗至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
[Leber's hereditary optic neuropathy].

Leber's hereditary optic atrophy (LHON) is a genetic optic neuropathy that is more prevalent in young males but can occur from childhood to old age. The primary cause is mitochondrial genetic mutations, which are associated with dysfunction of mitochondrial electron transport chain complex I. It manifests as acute to subacute visual impairment, often starting unilaterally but progressing to involve both eyes within weeks to months. Visual loss is severe, with many patients having corrected visual acuity below 0.1. The differential diagnosis of optic neuritis is essential, and assessments such as pupillary light reflex, fluorescein fundus angiography, and magnetic resonance imaging can be useful for differentiation. LHON should be considered as one of the differential diagnoses for optic neuritis, and collaboration between neurologists and ophthalmologists is crucial for accurate diagnosis and appropriate treatment.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Clinical Neurology
Clinical Neurology Medicine-Neurology (clinical)
CiteScore
0.30
自引率
0.00%
发文量
147
期刊最新文献
[A case of amyotrophic lateral sclerosis managed by tracheostomy and invasive ventilation in which air leaks occurred at the cuff]. [A case of primary central nervous system post-transplant lymphoproliferative disease 14 years after living donor liver transplantation]. [A case of propriospinal myoclonus at sleep onset in which video-polysomnography with additional surface electromyogram was useful for diagnosis]. [An adult case of adenovirus type 3 infection presenting as clinically mild encephalitis/encephalopathy with a reversible splenial lesion and increased IL-6 levels in the cerebrospinal fluid]. [Five-year outcomes in patients with ischemic stroke or transient ischemic attack after widespread use of direct oral anticoagulants].
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1