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Semin Neurol 2015; 35(05): 578-586
DOI: 10.1055/s-0035-1563574
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Therapeutic Approaches to Inherited Optic Neuropathies

Patrick Yu-Wai-Man
1   Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
2   Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
3   NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom
› Author Affiliations
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Publication History

Publication Date:
06 October 2015 (online)

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Abstract

As a group, inherited optic neuropathies represent an important cause of severe irreversible visual loss among children and young adults. Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common forms encountered in clinical practice and several shared disease pathways have emerged that contribute to retinal ganglion cell loss, and eventually visual failure. In this review, the author critically appraises the evidence base for the various therapeutic strategies that have been put forward to treat these two mitochondrially determined optic neuropathies, including future developments. Innovative in vitro fertilization techniques to prevent female carriers of childbearing age from transmitting pathogenic mitochondrial DNA mutations to their biological children will also be discussed.

Keywords

autosomal dominant optic atrophy - gene therapy - idebenone - Leber hereditary optic neuropathy - mitochondrial disorders - mitochondrial genetics - OPA1 - stem cells
 

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