Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Finsterer, Josef; Mancuso, Michelangelo; Pareyson, Davide; Burgunder, Jean-Marc; Klopstock, Thomas (2018). Mitochondrial disorders of the retinal ganglion cells and the optic nerve. Mitochondrion, 42, pp. 1-10. Elsevier 10.1016/j.mito.2017.10.003

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OBJECTIVES To summarise and discuss recent findings and future perspectives concerning mitochondrial disorders (MIDs) affecting the retinal ganglion cells and the optic nerve (mitochondrial optic neuropathy. MON). METHOD Literature review. RESULTS MON in MIDs is more frequent than usually anticipated. MON may occur in specific as well as non-specific MIDs. In specific and non-specific MIDs, MON may be a prominent or non-prominent phenotypic feature and due to mutations in genes located either in the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). Clinically, MON manifests with painless, bilateral or unilateral, slowly or rapidly progressive visual impairment and visual field defects. In some cases, visual impairment may spontaneously recover. The most frequent MIDs with MON include LHON due to mutations in mtDNA-located genes and autosomal dominant optic atrophy (ADOA) or autosomal recessive optic atrophy (AROA) due to mutations in nuclear genes. Instrumental investigations for diagnosing MON include fundoscopy, measurement of visual acuity, visual fields, and color vision, visually-evoked potentials, optical coherence tomography, fluorescein angiography, electroretinography, and MRI of the orbita and cerebrum. In non-prominent MON, work-up of the muscle biopsy with transmission electron microscopy may indicate mitochondrial destruction. Treatment is mostly supportive but idebenone has been approved for LHON and experimental approaches are promising. CONCLUSIONS MON needs to be appreciated, requires extensive diagnostic work-up, and supportive treatment should be applied although loss of vision, as the most severe outcome, can often not be prevented.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Burgunder, Jean-Marc


600 Technology > 610 Medicine & health








Stefanie Hetzenecker

Date Deposited:

28 Mar 2018 15:34

Last Modified:

22 Oct 2019 19:53

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

Mitochondrial Optic nerve Optic neuropathy Oxidative phosphorylation Respiratory chain Second cranial nerve mtDNA




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