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Leber遗传性视神经病变中的动脉鞘膜

Arterial sheathing in Leber hereditary optic neuropathy.

作者信息

Zhou Henry W, Odel Jeffrey G

机构信息

Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA.

出版信息

Am J Ophthalmol Case Rep. 2022 Feb 21;26:101431. doi: 10.1016/j.ajoc.2022.101431. eCollection 2022 Jun.

Abstract

PURPOSE

Presentation of a case of Leber hereditary optic neuropathy (LHON) with arterial sheathing eleven years after initial loss of vision.

OBSERVATIONS

A 46-year-old female was referred for re-evaluation of Leber hereditary optic neuropathy. She first noticed rapid painless loss of vision eleven years prior. Fundus imaging performed at that time did not demonstrate arterial sheathing. Genetic testing revealed the presence of the LHON 11778 G-A mitochondrial mutation. Laboratory values were within normal limits save for angiotensin-converting enzyme elevated to 69 U/L. Eleven years later, visual acuity was count fingers at 12 feet with complete loss of color vision. Funduscopic examination of the optic nerve revealed bilateral pallor, sheathing of the retinal arteries, diffuse vessel narrowing, and tortuous retinal vessels.

CONCLUSIONS AND IMPORTANCE

We present a case of LHON that demonstrates retinal arterial sheathing and possibly broadens the spectrum of LHON fundus findings.

摘要

目的

介绍一例视力首次丧失11年后出现动脉鞘膜的Leber遗传性视神经病变(LHON)病例。

观察结果

一名46岁女性因Leber遗传性视神经病变接受重新评估。她在11年前首次注意到视力迅速无痛性丧失。当时进行的眼底成像未显示动脉鞘膜。基因检测发现存在LHON 11778 G-A线粒体突变。实验室检查值除血管紧张素转换酶升高至69 U/L外均在正常范围内。11年后,视力为12英尺处数指,色觉完全丧失。视神经的眼底检查显示双侧苍白、视网膜动脉鞘膜、弥漫性血管变窄和视网膜血管迂曲。

结论及重要性

我们报告一例LHON病例,该病例显示视网膜动脉鞘膜,可能拓宽了LHON眼底表现的范围。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/8881369/b954c4ea6e20/gr1.jpg

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