Mitochondrial optic neuropathies

Mitochondrial optic neuropathies are a type of metabolic optic neuropathy that share mitochondrial dysfunction as the common pathological pathway, leading to the loss of selective retinal ganglion cells and fibers that make up the optic nerve. This condition is characterized by a classical pattern of retinal nerve fiber layer loss, resulting in temporal optic disc pallor and central scotoma, which are hallmarks of mitochondrial optic neuropathies.From: A Clinical Approach to Neuro-Ophthalmic Disorders [2023], Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber’s Hereditary Optic Neuropathy and Dominant Optic Atrophy [2019]

Nutritional Optic Neuropathy

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Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023

William Sultan, Giulia Amore, Uchenna Francis Nwako, Stacey Aquino Cohitmingao, Samuel Asanad, Alfredo Sadun

Macular disorders may occasionally be mistaken for mitochondrial optic neuropathies since they also cause the loss of central vision. Macular impairments usually are revealed by the presence of metamorphopsia and less severe or absent color vision impairment. Visual fields can show central or paracentral, rather than cecocentral, defects.

Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber’s Hereditary Optic Neuropathy and Dominant Optic Atrophy

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Published in Current Eye Research, 2019

Samuel Asanad, Jack J. Tian, Starleen Frousiakis, Jerry P. Jiang, Kaitlin Kogachi, Christian M. Felix, Darvizeh Fatemeh, Anne Gority Irvine, Anna Ter-Zakarian, Khalil Ghasemi Falavarjani, Piero Barboni, Rustum Karanjia, Alfredo A. Sadun

DOA shares a similar pattern of nerve fiber loss with LHON in the chronic stage. This classical pattern of RNFL loss associated with mitochondrial optic neuropathies clinically manifests as temporal optic disc pallor on fundus examination and corresponding central scotoma; both hallmarks of mitochondrial optic neuropathies.22,23 In acute LHON, there is a population of swollen axons that may either return to normal or die. In chronic LHON, the swelling has resolved but most axons have died.

Mitochondrial optic neuropathies

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Nutritional Optic Neuropathy

Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber’s Hereditary Optic Neuropathy and Dominant Optic Atrophy