Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome.

Journal of Neurology
Stefano ZoccolellaLuigi Maria Specchio

Abstract

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural hearing loss, and memory dysfunction, suggestive of Susac's syndrome. The patient carried the heteroplasmic mt. 11778G>A mutation on the T2e mtDNA haplogroup. It remains unclear if chronic alcohol abuse combined with the mitochondrial genetic background prompted an aged-related neurodegeneration or deferred the onset of the LHON disease.

References

Apr 1, 1993·Archives of Ophthalmology·D R JohnsK H Smith
Apr 9, 1998·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·E T Ajax, R Kardon
Apr 29, 1999·Proceedings of the National Academy of Sciences of the United States of America·L A EspositoD C Wallace
Dec 22, 2000·American Journal of Ophthalmology·J B KerrisonN J Newman
Mar 19, 2002·Journal of Medical Genetics·P Yu-Wai-ManP F Chinnery
Nov 1, 2002·Journal of the Neurological Sciences·Anu PuomilaKirsi Huoponen
Dec 5, 2002·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Neil HowellIwona Kubacka
Dec 29, 2005·American Journal of Human Genetics·Gavin HudsonPatrick F Chinnery
May 9, 2006·Trends in Genetics : TIG·Antonio TorroniHans-Jürgen Bandelt
Jul 11, 2006·Progress in Retinal and Eye Research·May-Yung YenYau-Huei Wei
Oct 31, 2006·Journal of Human Genetics·Nopasak PhasukkijwatanaPatcharee Lertrit
Dec 12, 2007·Acta Ophthalmologica·Patrick Yu-Wai-ManPatrick F Chinnery
Jun 20, 2008·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Patrick Yu-Wai-ManPatrick F Chinnery
Jun 20, 2008·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Lora R DagiDean M Cestari
Jun 24, 2008·Survey of Ophthalmology·Vinay A ShahRod Foroozan
Jan 16, 2009·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Siddharama PawateSubramaniam Sriram
Jul 15, 2009·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Nathan M KerrHelen V Danesh-Meyer

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Citations

Dec 6, 2011·Nucleic Acids Research·Francesco RubinoMarcella Attimonelli
Jan 10, 2012·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·F J MateenG W Petty
Sep 1, 2015·Journal of Neurology·Yi Shiau Ng, Doug M Turnbull

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