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.

Highlights

  • CASE REPORTA Moodley, MB ChB, FCP Neurol (SA), PhD; S Bhola, MB ChB; F Omar, MB ChB, MMed, FCPath (SA); J Mogambery, MB ChB, FCP (SA)

  • Optic neuropathy in HIV disease is due to the virus itself, para-infectious disease, oppor­ tunistic infections, compression, raised intra­ cranial pressure or drug therapy.[1]

  • We present two patients from our neuroophthalmology unit who presented with central visual loss after starting antiretroviral therapy containing tenofovir, lamivudine and efavirenz

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Summary

CASE REPORT

A Moodley, MB ChB, FCP Neurol (SA), PhD; S Bhola, MB ChB; F Omar, MB ChB, MMed, FCPath (SA); J Mogambery, MB ChB, FCP (SA). 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. Optic neuropathy in HIV disease is due to the virus itself, para-infectious disease, oppor­ tunistic infections, compression, raised intra­ cranial pressure or drug therapy.[1] it is no surprise that visual loss from optic nerve disease is common in patients infected with HIV. The immune-mediated optic neuropathies are para-infectious and occur in the setting of seroconversion or as part of acute disseminated encephalomyelitis when CD4+ counts may be relatively normal; these often respond to intravenous steroid therapy. Immune mediated Isolated seroconversion optic neuritis Acute disseminated encephalomyelitis Infectious optic neuritis Bacterial: syphilis, tuberculosis Viral: cytomegalovirus, varicella zoster virus, herpes simplex virus Parasitic: toxoplasmosis Fungal: cryptococcal meningitis

Infiltrative optic neuropathy Lymphoma
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