• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Is all nondefinable optic atrophy Leber's hereditary optic neuropathy?

作者信息

Swartz N, Savino P J

机构信息

Neuro-Ophthalmology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.

出版信息

Surv Ophthalmol. 1994 Sep-Oct;39(2):146-50. doi: 10.1016/0039-6257(94)90160-0.

DOI:10.1016/0039-6257(94)90160-0
PMID:7801223
Abstract

Leber's hereditary optic neuropathy has been considered a bilateral, sequential hereditary optic neuropathy occurring overwhelmingly in young men. Until recently the diagnosis has been based on clinical criteria: severe loss of vision associated with central scotomas and classic ophthalmoscopic findings (circumpapillary telangiectatic microangiopathy, pseudoedema of the disk with absence of staining on fluorescein angiography, tortuous vessels in the early stages and eventually optic disk pallor). In 1988 a genetic mutation associated with Leber's hereditary optic neuropathy affecting mitochondrial DNA was recognized. Subsequently other mutations have been discovered as well. The ability to identify these patients technically has allowed us to recognize cases that do not fit our previous clinical criteria. One such case is presented and the question asked is whether the findings are related to the clinical course.

摘要

相似文献

1
Is all nondefinable optic atrophy Leber's hereditary optic neuropathy?
Surv Ophthalmol. 1994 Sep-Oct;39(2):146-50. doi: 10.1016/0039-6257(94)90160-0.
2
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.伴有11778突变的Leber遗传性视神经病变家系的临床特征
Am J Ophthalmol. 1991 Jun 15;111(6):750-62. doi: 10.1016/s0002-9394(14)76784-4.
3
Peripapillary fluorescein leakage in 11778 Leber's optic neuropathy.
J Neuroophthalmol. 1996 Sep;16(3):178-81.
4
Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss.
J Clin Neuroophthalmol. 1991 Sep;11(3):152-7.
5
Stargardt's type maculopathy in a patient with 11778 Leber's optic neuropathy.
J Neuroophthalmol. 1996 Jun;16(2):120-3.
6
Two brothers with bilateral optic neuropathy.
Surv Ophthalmol. 1995 Mar-Apr;39(5):417-24. doi: 10.1016/s0039-6257(05)80098-0.
7
Update on hereditary optic neuropathy.遗传性视神经病变的最新进展。
Semin Ophthalmol. 1999 Jun;14(2):74-80. doi: 10.3109/08820539909056067.
8
Nonfamilial and unusual cases of Leber's hereditary optic neuropathy identified by mitochondrial DNA analysis.通过线粒体DNA分析鉴定出的非家族性及罕见的Leber遗传性视神经病变病例。
Jpn J Ophthalmol. 1992;36(2):197-204.
9
Optic nerve sheath distention in Leber's optic neuropathy and the significance of the "Wallace mutation".
J Clin Neuroophthalmol. 1990 Dec;10(4):231-8.
10
Leber's optic neuropathy. New observations.莱伯视神经病变。新观察结果。
J Clin Neuroophthalmol. 1986 Sep;6(3):144-52.

引用本文的文献

1
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.304例疑似儿童期起病遗传性视神经病变的中国患者中DOA和LHON的遗传学及临床分析
PLoS One. 2017 Jan 12;12(1):e0170090. doi: 10.1371/journal.pone.0170090. eCollection 2017.
2
Leber's hereditary opric neuropathy: a case report.莱伯遗传性视神经病变:一例报告。
Kaohsiung J Med Sci. 2003 Oct;19(10):516-21. doi: 10.1016/s1607-551x(09)70500-5.