Toxic-Metabolic and Hereditary Optic Neuropathies
- 1 October 2019
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in CONTINUUM: Lifelong Learning in Neurology
- Vol. 25 (5), 1265-1288
- https://doi.org/10.1212/con.0000000000000769
Abstract
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). 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. 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).Keywords
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