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鉴别Leber遗传性视神经病变与正常眼压性青光眼。

Differentiating Leber Hereditary Optic Neuropathy from Normal-Tension Glaucoma.

作者信息

Souto Fernanda Maria Silveira, de Vasconcellos José Paulo Cabral, de Melo Mônica Barbosa, Sartorato Edi Lúcia, Moura Frederico Castelo

机构信息

Department of Ophthalmology, Faculty of Medical Sciences, University of Campinas , Campinas, São Paulo, Brazil.

Center for Molecular Biology and Genetic Engineering, University of Campinas , Campinas, São Paulo, Brazil.

出版信息

Neuroophthalmology. 2017 Feb 17;41(2):99-102. doi: 10.1080/01658107.2017.1279185. eCollection 2017 Apr.

DOI:10.1080/01658107.2017.1279185
PMID:28348633
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5354091/
Abstract

Glaucoma is a neurodegenerative disorder characterized by thinning of neuroretinal rim, enlarged cup-to-disc ratio (CDR) and visual field damage. Although raised intraocular pressure is main risk factor for development of glaucoma, it can occur with consistently normal measurements in the intraocular pressure as normal tension glaucoma (NTG). Enlargement of CDR is a classical sign of glaucoma, but it can also result from non-glaucomatous optic neuropathies such as Leber hereditary optic neuropathy (LHON). We describe a case of LHON with increased CDR, discuss its differential diagnosis with NTG and highlight the reasons for misdiagnoses between these two entities.

摘要

青光眼是一种神经退行性疾病,其特征为神经视网膜边缘变薄、杯盘比(CDR)增大和视野损害。虽然眼压升高是青光眼发病的主要危险因素,但在眼压测量始终正常的情况下也可能发生,即正常眼压性青光眼(NTG)。CDR增大是青光眼的典型体征,但也可能由非青光眼性视神经病变引起,如Leber遗传性视神经病变(LHON)。我们描述了一例CDR增加的LHON病例,讨论了其与NTG的鉴别诊断,并强调了这两种疾病之间误诊的原因。

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本文引用的文献

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Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.晚期原发性开角型青光眼和Leber遗传性视神经病变中全身线粒体功能的测量
PLoS One. 2015 Oct 23;10(10):e0140919. doi: 10.1371/journal.pone.0140919. eCollection 2015.
2
Leber hereditary optic neuropathy: current perspectives.莱伯遗传性视神经病变:当前观点
Clin Ophthalmol. 2015 Jun 26;9:1165-76. doi: 10.2147/OPTH.S62021. eCollection 2015.
3
New directions in the treatment of normal tension glaucoma.正常眼压性青光眼治疗的新方向。
Indian J Ophthalmol. 2014 May;62(5):529-37. doi: 10.4103/0301-4738.133481.
4
Glaucoma progression associated with Leber's hereditary optic neuropathy.与Leber遗传性视神经病变相关的青光眼进展
Int Ophthalmol. 2013 Feb;33(1):75-7. doi: 10.1007/s10792-012-9623-4. Epub 2012 Sep 17.
5
Risk factors for incident open-angle glaucoma: the Barbados Eye Studies.原发性开角型青光眼发病的危险因素:巴巴多斯眼科研究
Ophthalmology. 2008 Jan;115(1):85-93. doi: 10.1016/j.ophtha.2007.03.017. Epub 2007 Jul 16.
6
Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph.使用海德堡视网膜断层扫描仪评估不同类型视神经病变中的视盘形态。
Eye (Lond). 2008 Sep;22(9):1154-60. doi: 10.1038/sj.eye.6702871. Epub 2007 May 25.
7
Mitochondrial abnormalities in patients with primary open-angle glaucoma.原发性开角型青光眼患者的线粒体异常
Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2533-41. doi: 10.1167/iovs.05-1639.
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Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma.日本开角型青光眼患者中与Leber遗传性视神经病变相关的线粒体DNA突变
Jpn J Ophthalmol. 2006 Mar-Apr;50(2):128-34. doi: 10.1007/s10384-005-0290-0.
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10
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J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162.