Leber's Hereditary Optic Neuropathy: Novel Views and Persisting Challenges

被引：6

作者：

Jancic, Jasna ^{[1
]}

Samardzic, Janko ^{[2
]}

Stojanovic, Stevan ^{[1
]}

Stojanovic, Amalija ^{[3
]}

Milanovic, Ana Marija ^{[3
]}

Nikolic, Blazo ^{[1
]}

Ivancevic, Nikola ^{[1
]}

Kostic, Vladimir ^{[4
]}

机构：

[1] Univ Belgrade, Med Fac, Clin Neurol & Psychiat Children & Youth, Belgrade, Serbia

[2] Univ Belgrade, Med Fac, Inst Pharmacol Clin Pharmacol & Toxicol, Belgrade, Serbia

[3] Univ Belgrade, Med Fac, Belgrade, Serbia

[4] Univ Belgrade, Med Fac, Clin Neurol, Belgrade, Serbia

来源：

CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS | 2017年 / 16卷 / 08期

关键词：

Leber's hereditary optic neuropathy; epidemiology; etiopathogenesis; clinical features; drug targets; multi-systemic involvement; mitochondrial disease; ophthalmological manifestations; GANGLION-CELL DEATH; MITOCHONDRIAL BIOGENESIS; MULTIPLE-SCLEROSIS; 11778; MUTATION; UNAFFECTED CARRIERS; CLINICAL-FEATURES; VISUAL RECOVERY; COENZYME Q(10); COLOR-VISION; DISEASE;

D O I：

10.2174/1871527316666170724172455

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Background & Objective: Leber's hereditary optic neuropathy is an inherited form of optic neuropathy, genetically and pathophysiologically based on mitochondrial insufficiency causing bilateral loss of central vision mostly amongst young adults. Despite being one of the most common mitochondrial diseases, the explanation for its pathophysiological background and effective clinical solutions remain elusive. Widening the scope in the search for pathological findings beyond the optic system has yielded several non-ophthalmologic findings, which might imply that Leber's hereditary optic neuropathy is in fact a multi-systemic disease. Conclusion: The aim of this review is to provide an overview of literature regarding the epidemiology, etiology, pathogenesis, clinical features, diagnostics and possible treatment options and drug targets, as well as presenting challenges related to the disease and proposing a diagnostic algorithm based on current clinical experience.

引用

页码：927 / 935

页数：9

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