Abstract
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.
Keywords: Leber's hereditary optic neuropathy, epidemiology, etiopathogenesis, clinical features, drug targets, multi-systemic involvement, mitochondrial disease, ophthalmological manifestations.
Graphical Abstract
CNS & Neurological Disorders - Drug Targets
Title:Leber's Hereditary Optic Neuropathy: Novel Views and Persisting Challenges
Volume: 16 Issue: 8
Author(s): Jasna Jancic, Janko Samardzic*, Stevan Stojanovic, Amalija Stojanovic, Ana Marija Milanovic, Blazo Nikolic, Nikola Ivancevic and Vladimir Kostic
Affiliation:
- Institute of Pharmacology, Clinical Pharmacology and Toxicology, Medical Faculty, University of Belgrade, Belgrade,Serbia
Keywords: Leber's hereditary optic neuropathy, epidemiology, etiopathogenesis, clinical features, drug targets, multi-systemic involvement, mitochondrial disease, ophthalmological manifestations.
Abstract: 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.
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Jancic Jasna , Samardzic Janko *, Stojanovic Stevan , Stojanovic Amalija , Milanovic Marija Ana , Nikolic Blazo , Ivancevic Nikola and Kostic Vladimir , Leber's Hereditary Optic Neuropathy: Novel Views and Persisting Challenges, CNS & Neurological Disorders - Drug Targets 2017; 16 (8) . https://dx.doi.org/10.2174/1871527316666170724172455
DOI https://dx.doi.org/10.2174/1871527316666170724172455 |
Print ISSN 1871-5273 |
Publisher Name Bentham Science Publisher |
Online ISSN 1996-3181 |
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