Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus

D A Mackey; J H Fingert; J Z Luzhansky; P J McCluskey; N Howell; A J H Hall; A B Pierce; J F Hoy

doi:10.1038/sj.eye.6700362

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Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus

Journal article

Open access

Peer reviewed

Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus

D A Mackey, J H Fingert, J Z Luzhansky, P J McCluskey, N Howell, A J H Hall, A B Pierce and J F Hoy

Eye (London), Vol.17(3), pp.312-317

04/2003

DOI: 10.1038/sj.eye.6700362

PMID: 12724691

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Abstract

To describe the clinical features of two cases of Leber's hereditary optic neuropathy (LHON) precipitated by antiretroviral treatment for human immunodeficiency virus (HIV) infection. Two cases of LHON (from an expected four new cases a year throughout Australia) were identified in men on treatment for HIV infection. Two HIV-infected men were receiving combination antiretroviral therapy that included nucleoside analogues. Both patients carried the 14 484 mitochondrial DNA mutation and were distantly related (seventh cousins). Although both men presented with sequential visual loss typical of LHON and one had a known close relative affected by LHON, the correct diagnosis was delayed in both cases. The final visual outcome was profoundly reduced in both instances and cessation of antiretroviral therapy did not result in recovery of vision in one patient. Patients with a family history of LHON who require antiretroviral treatment should be warned of the high risk of severe visual loss. The underlying mechanism of antiretroviral side effects may help characterize the other trigger factors for LHON.

DNA, Mitochondrial - genetics

Optic Atrophy, Hereditary, Leber - chemically induced

Pedigree

Anti-HIV Agents - adverse effects

Humans

Middle Aged

HIV Infections - drug therapy

Male

Optic Atrophy, Hereditary, Leber - genetics

Drug Therapy, Combination

Details

Title: Subtitle: Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus
Creators: D A Mackey - Department of Ophthalmology, Centre for Eye Research, Australia Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia. D.Mackey@utas.edu.au
J H Fingert
J Z Luzhansky
P J McCluskey
N Howell
A J H Hall
A B Pierce
J F Hoy
Resource Type: Journal article
Publication Details: Eye (London), Vol.17(3), pp.312-317
Publisher: England
DOI: 10.1038/sj.eye.6700362
PMID: 12724691
ISSN: 0950-222X
eISSN: 1476-5454
Language: English
Date published: 04/2003
Academic Unit: Ophthalmology and Visual Sciences
Record Identifier: 9983979910702771

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