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伴有Leber遗传性视神经病变并发突变的压迫性视神经病变:一例报告

Compressive Optic Neuropathy with a Concurrent Mutation of Leber's Hereditary Optic Neuropathy: A Case Report.

作者信息

Park Yooyeon, Ohn Kyong, Ahn Ye Jin, Jang Jinhee, Park Shin Hae

机构信息

Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Department of Radiology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

Neuroophthalmology. 2020 Jan 28;44(6):387-390. doi: 10.1080/01658107.2019.1703197. eCollection 2020.

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that leads to acute or subacute, painless, bilateral loss of vision, caused by degeneration of retinal ganglion cells that most affects men in their second or third decade of life. We describe a woman with compressive optic neuropathy with a concurrent LHON-associated mitochondrial mutation. Temporal hemifield defect connected to central scotoma and concurrent abduction limitation are diagnostic clues in identifying chiasmal compression with craniopharyngioma. This case emphasizes an awareness of the possible coexistence of compressive and hereditary optic neuropathy.

摘要

Leber遗传性视神经病变(LHON)是一种线粒体遗传病,可导致急性或亚急性、无痛性、双侧视力丧失,由视网膜神经节细胞变性引起,主要影响二三十岁的男性。我们描述了一名患有压迫性视神经病变并伴有LHON相关线粒体突变的女性。与中央暗点相关的颞侧视野缺损和并发的外展受限是识别颅咽管瘤导致的视交叉压迫的诊断线索。该病例强调了要意识到压迫性和遗传性视神经病变可能并存。

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本文引用的文献

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Craniopharyngioma.颅咽管瘤。
Endocr Rev. 2014 Jun;35(3):513-43. doi: 10.1210/er.2013-1115. Epub 2014 Jan 27.
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Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.
Ophthalmic Genet. 1999 Sep;20(3):153-60. doi: 10.1076/opge.20.3.153.2281.

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