Suppr超能文献

迟发性Leber遗传性视神经病变

Late-onset Leber's hereditary optic neuropathy.

作者信息

Ajax E T, Kardon R

机构信息

Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.

出版信息

J Neuroophthalmol. 1998 Mar;18(1):30-1.

PMID:9532536
Abstract

Progressive, sequential visual loss in the left and then right eye was reported in a 73-year-old male over three months. The presence of a family history of visual loss and the lack of other findings in association with bilateral cecocentral scotomata led to a diagnosis of new onset Leber's hereditary optic neuropathy, confirmed by the presence of a mutation at the 11,778 position. This case illustrates that Leber's hereditary optic neuropathy may manifest late in life.

摘要

据报道,一名73岁男性在三个月内左眼然后右眼出现进行性、连续性视力丧失。存在视力丧失家族史且缺乏与双侧中心暗点相关的其他发现,导致诊断为新发的Leber遗传性视神经病变,11778位突变的存在证实了这一诊断。该病例表明,Leber遗传性视神经病变可能在生命后期出现。

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