• Lancet neurology · Feb 2023

    Review

    Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.

    • Nancy J Newman, Patrick Yu-Wai-Man, Valérie Biousse, and Valerio Carelli.
    • Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA; Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Department of Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: ophtnjn@emory.edu.
    • Lancet Neurol. 2023 Feb 1; 22 (2): 172188172-188.

    AbstractHereditary optic neuropathies result from defects in the human genome, both nuclear and mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy and Leber hereditary optic neuropathy. Advances in modern molecular diagnosis have expanded our knowledge of genotypes and phenotypes of inherited disorders that affect the optic nerve, either alone or in combination, with various forms of neurological and systemic degeneration. A unifying feature in the pathophysiology of these disorders appears to involve mitochondrial dysfunction, suggesting that the retinal ganglion cells and their axons are especially susceptible to perturbations in mitochondrial homoeostasis. As we better understand the pathogenesis behind these genetic diseases, aetiologically targeted therapies are emerging and entering into clinical trials, including treatments aimed at halting the cascade of neurodegeneration, replacing or editing the defective genes or their protein products, and potentially regenerating damaged optic nerves, as well as preventing generational disease transmission.Copyright © 2023 Elsevier Ltd. All rights reserved.

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