Treatment strategies for Leber hereditary optic neuropathy. Issue 1 (February 2019)

• Record Type: Journal Article
• Authors: Jurkute, Neringa; Harvey, Joshua; Yu-Wai-Man, Patrick
• Is Part Of: Current opinion in neurology. Volume 32:Issue 1(2019)
• Publication Date: 2019-02
• Subjects: gene therapy -- idebenone -- Leber hereditary optic neuropathy -- mitochondrial disease -- retinal ganglion cells; Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.805
• DOI: 10.1097/WCO.0000000000000646
• Languages: English
• ISSNs: 1473-6551

Abstract

Abstract : Purpose of review: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the population and it carries a poor visual prognosis. In this article, we review the development of treatment strategies for LHON, the evidence base and the areas of unmet clinical need. Recent findings: There is accumulating evidence that increasing mitochondrial biogenesis could be an effective strategy for protecting retinal ganglion cells in LHON. A number of clinical trials are currently investigating the efficacy of viral-based gene therapy for patients harbouring the m.11778G>A mtDNA mutation. For female LHON carriers of childbearing age, mitochondrial replacement therapy is being offered to prevent the maternal transmission of pathogenic mtDNA mutations. Summary: Although disease-modifying treatment options remain limited, a better understanding of the underlying disease mechanisms in LHON is paving the way for complementary neuroprotective and gene therapeutic strategies for this mitochondrial optic nerve disorder.