Article

Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome

Department of Neurology, RoyalPreston Hospital, Preston,Lancashire, UK.
Practical Neurology 05/2008; 8(2):118-21. DOI: 10.1136/jnnp.2007.139360
Source: PubMed

ABSTRACT

We describe a 32-year-old woman with sequential, severe, painless visual loss in one eye and then the other, and three temporally distinct episodes of neurological disturbance suggestive of demyelination in the spinal cord. She was positive for the T14484C mutation in the mitochondrial genome, one of three common mutations causing Leber's hereditary optic neuropathy. In addition, MRI identified areas of demyelination within the periventricular white matter of the brain and within the spinal cord. The coexistence of multiple sclerosis and Leber's hereditary optic neuropathy (Harding's syndrome) is known to occur more often than would be expected by chance; therefore, screening for the Leber's mutations in multiple sclerosis patients with severe visual loss should be considered because this has important prognostic and genetic implications.

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    • "The authors then stated that the coincidence of MS and LHON, that is, Harding's syndrome happens more often than would be expected by chance. They also suggested that screening for the LHON mutations in MS patients presenting with severe visual loss should be carried out due to its important prognostic and genetic implications [71]. La Russa et al. reported that a 35-year-old young man presenting with LHON owing to T14484C showed MS phenotype, which was spinal cord impairment [72]. "

    Full-text · Dataset · Feb 2015
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    • "The authors then stated that the coincidence of MS and LHON, that is, Harding's syndrome happens more often than would be expected by chance. They also suggested that screening for the LHON mutations in MS patients presenting with severe visual loss should be carried out due to its important prognostic and genetic implications [71]. La Russa et al. reported that a 35-year-old young man presenting with LHON owing to T14484C showed MS phenotype, which was spinal cord impairment [72]. "

    Full-text · Dataset · Feb 2015
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    ABSTRACT: Die Lebersche hereditäre Optikusneuropathie (LHON; http://omim.org/entry 535000) ist eine seltene erbliche Erkrankung der Ganglienzellen der Netzhaut mit der Folge einer meist bleibenden hochgradigen beidseitigen Visusminderung mit großen zentralen Gesichtsfeldausfällen. Im Anfangsstadium wird die Erkrankung nur in Ausnahmefällen diagnostiziert, meist wird zunächst eine Retrobulbärneuritis angenommen und der LHON-Patient der für eine Neuritis nervi optici üblichen Diagnostik und Therapie unterzogen. Erst dann, wenn sich die Befunde trotz aller therapeutischen Bemühungen nicht bessern, sondern z. B. durch den Befall des zweiten Auges verschlimmern, wird an eine LHON gedacht und die erforderliche beweisführende molekulargenetische Analyse veranlasst. Eine sorgfältige Anamnese inklusive Stammbaumerhebung sowie die Beachtung von Besonderheiten der Papillen des Patienten und seiner Angehörigen können helfen, die klinische Verdachtsdiagnose früher zu stellen. Aber auch bei exakter klinischer und molekulargenetischer Diagnosesicherung gibt die Erkrankung heute noch Rätsel auf.
    No preview · Article · Dec 2011 · Der Ophthalmologe
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