Case Report

Antiretroviral therapy-induced Leber’s hereditary optic neuropathy

Anand Moodley, Sudika Bhola, Fierdoz Omar, Jade Mogambery
Southern African Journal of HIV Medicine | Vol 15, No 2 | a24 | DOI: https://doi.org/10.4102/sajhivmed.v15i2.24 | © 2014 Anand Moodley, Sudika Bhola, Fierdoz Omar, Jade Mogambery | This work is licensed under CC Attribution 4.0
Submitted: 12 December 2014 | Published: 23 May 2014

About the author(s)

Anand Moodley, Department of Neurology, Grey’s Hospital, Pietermaritzburg and University of KwaZulu-Natal, Durban, South Africa, South Africa
Sudika Bhola, Department of Neurology, Grey’s Hospital, Pietermaritzburg and University of KwaZulu-Natal, Durban, South Africa
Fierdoz Omar, Chemical Pathology Laboratory, Groote Schuur Hospital; National Health Laboratory Service and University of Cape Town, South Africa
Jade Mogambery, Department of Medicine, Grey’s Hospital, Pietermaritzburg, South Africa

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Abstract

Optic neuropathy in HIV-infected patients results from the HIV infection itself, post-infectious auto-immune disease, opportunistic infections and drugs. Nucleoside reverse transcriptase inhibitors (NRTIs) such as zidovudine and stavudine have known mitochondrial toxicity and can cause mitochondrial myopathies, neuropathies, hyperlactataemia, and can induce mitochondrial genetic disorders. Individuals with the mutation for Leber’s hereditary optic neuropathy (LHON), a mitochondrial disorder, are usually asymptomatic but develop visual loss when exposed to external triggers such as smoking. We report on two HIV-infected patients with LHON mutations (m.14484T>C and m.11778G>A) who developed profound visual loss with antiretroviral therapy. We postulate that the phenotypic expression of LHON in these genetically predisposed individuals was triggered by NRTI drugs lamivudine and tenofovir when used in combination, despite their relatively weak mitochondrial toxic effects. 


Keywords

Leber's hereditary optic neuropathy; LHON; Nucleoside reverse transcriptase inhibitor; antiretrovirals; mitochondrial disease

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