Cuban Epidemic Optic Neuropathy

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Title Cuban Epidemic Optic Neuropathy
Creator Donald R. Johns, MD; Alfredo A. Sadun, MD, PhD
Affiliation Department of Neurology, Harvard Medical School, Beth Israel Hospital, Massachusetts Eye and Ear Infirmary, Boston 02115
Abstract OBJECTIVE: To search for mitochondrial DNA (mtDNA) mutations previously associated with Leber's hereditary optic neuropathy (LHON) in patients with an optic neuropathy that appeared in epidemic form in Cuba. METHODS: Twelve Cuban patients underwent a comprehensive neuro-ophthalmologic examination and were found to have a characteristic optic neuropathy, Cuban epidemic optic neuropathy (CEON). At the same time, one patient was diagnosed with typical LHON that occurred during the epidemic. Blood samples were taken from these patients as well as from 3 controls with normal neuro-ophthalmologic examinations. These samples were blindly analyzed for 9 LHON-associated mtDNA mutations by molecular genetic methods. RESULTS: CEON bore clinical and epidemiological similarity to LHON, however, family histories, systemic symptoms (especially weight loss and polyuria), and symptoms of peripheral neuropathy permitted a clinical distinction. None of the 12 patients with CEON or 3 controls had any of the LHON-associated mtDNA mutations. Only the patient with clinical LHON, who did not meet the case definition for CEON, harbored the 11778 mtDNA mutation. CONCLUSIONS: Known mtDNA mutations are not found frequently in CEON patients but they may contribute to some cases of Cuban optic neuropathy. CEON may represent an acquired variety of mitochondrial dysfunction induced by nutritional deficiencies, toxins, or both. Alternatively, CEON patients may also harbor as yet undiscovered mtDNA mutations that contribute to their genetic susceptibility.
Subject Cuba/Epidemiology; DNA Mutational Analysis; Mitochondrial DNA; Disease Outbreaks; Female; Humans; Male; Mutation; Optic Atrophies, Hereditary/Epidemiology; Optic Atrophies, Hereditary/Etiology; Optic Atrophies; Hereditary/Genetics; Optic Nerve Diseases/Epidemiology; Optic Nerve Diseases/Etiology; Optic Nerve Diseases/Genetics; Polymerase Chain Reaction; Risk Factors
Date 1996-09
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6fb880b
Setname ehsl_novel_jno
ID 224502
Reference URL https://collections.lib.utah.edu/ark:/87278/s6fb880b
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