Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection.
OBJECTIVE
Antiretroviral therapy has reduced the morbidity and mortality associated with human immunodeficiency virus (HIV) infection. However, side effects are increasingly recognized, including a commonly reported toxic mitochondrial myopathy. We report such a case of Leber hereditary optic neuropathy in a patient with antiretroviral therapy for HIV infection and speculate on a possible toxic etiologic role in the development of Leber hereditary optic neuropathy by a shared mitochondrial mechanism.


METHODS
Case Report. Bilateral optic disk abnormalities observed in a 38-year-old HIV positive man with a family history of Leber hereditary optic neuropathy were documented with fundus photography, color vision testing, and visual field testing. Mitochondrial DNA testing was used to confirm the genetic predisposition to Leber hereditary optic neuropathy.


RESULTS
Progressive bilateral optic nerve pallor temporally associated with the administration of antiretroviral medication was observed. Diagnostic testing revealed progressive visual field and color vision loss as well as a mitochondrial DNA mutation consistent with Leber hereditary optic neuropathy.


CONCLUSIONS
Antiretroviral therapy may be associated with the onset of Leber hereditary optic neuropathy in genetically predisposed patients.
Shaikh
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Department of Ophthalmology, Stanford University School of Medicine, Stanford, California, USA. saads@earthlink.net
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Basham
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Mansour
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D000328:Adult; D019380:Anti-HIV Agents / Q000009:adverse effects*; D003117:Color Vision Defects / Q000139:chemically induced; D004272:DNA, Mitochondrial / Q000235:genetics; D004359:Drug Therapy, Combination; D005654:Fundus Oculi; D015658:HIV Infections / Q000188:drug therapy*; D006801:Humans; D008297:Male; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000139:chemically induced* / Q000235:genetics; D009900:Optic Nerve / Q000187:drug effects*; D010375:Pedigree; D014794:Visual Fields / Q000187:drug effects
D019380:Anti-HIV Agents; D004272:DNA, Mitochondrial