Toxic-Metabolic and Hereditary Optic Neuropathies

Cristiano Oliveira, MD Neuro-ophthalmology p. 1265-1288 October 2019, Vol.25, No.5 doi: 10.1212/CON.0000000000000769
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PURPOSE OF REVIEW The diagnosis of visual loss from toxic-metabolic and hereditary optic neuropathies may be delayed in some cases because of a failure to elicit important information in the clinical history or to recognize typical examination findings. An understanding of the features specific to each type of toxic-metabolic and hereditary optic neuropathy, and of the underlying mechanism of insult to the optic nerve, could lead to earlier recognition, diagnosis, and treatment (when available).

RECENT FINDINGS Understanding of the role of mitochondria in toxic-metabolic and hereditary optic neuropathies is growing, particularly regarding the mechanism of insult of certain agents (medications and toxins) and of vitamin B12 deficiency. New developments in the quest for treatment for hereditary optic neuropathy, specifically Leber hereditary optic neuropathy, are being seen.

SUMMARY Toxic-metabolic and hereditary optic neuropathies present in a similar fashion, with painless, progressive, bilateral visual loss with dyschromatopsia and cecocentral visual field defects. The associated retinal ganglion cell and axonal loss is typically due to mitochondrial dysfunction caused by an exogenous agent (toxic), by insufficient or deficient substrate (metabolic or nutritional), or by abnormal proteins or mitochondrial structure determined by a genetic mutation (hereditary).

Address correspondence to Dr Cristiano Oliveira, 1305 York Ave, 11th Floor, New York, NY, 10021, [email protected].

RELATIONSHIP DISCLOSURE: Dr Oliveira reports no disclosure.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Oliveira discusses the unlabeled/investigational use of gene therapy and idebenone for Leber hereditary optic neuropathy.

© 2019 American Academy of Neurology.