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[Eye diseases in mitochondrial encephalomyopathies]

[Eye diseases in mitochondrial encephalomyopathies] Research Abstract Details 

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  • [Eye diseases in mitochondrial encephalomyopathies] Abstract Text:

    d mojonD Mojon,

    Mitochondria are the principal site of generation of energy in form of adenosine triphosphate (ATP). They contain the enzymes of the Krebs and fatty acid cycles and the respiratory pathway. Ocular tissues with high energy consumption and dependence on oxidative energy production like the optic nerve, the retina, and the pigment epithelium are often involved in mitochondrial diseases. This article reviews the genetic mitochondrial diseases involving the visual system. Their most important ocular findings include: acute or slowly progressive bilateral visual loss and visual field loss due to an optic neuropathy or retinal degeneration, bilateral progressive decreased ocular motility, and bilateral upper lid ptosis. The following diseases are discussed: Leber's Hereditary Optic Neuropathy (LHON); Kearns-Sayre Syndrom (KSS); Chronic Progressive External Ophthalmoplegia (CPEO); Autosomal Recessive Cardiomyopathy, Ophthalmoplegia (ARCO); Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS); Neuropathy, Ataxia, Retinitis Pigmentosa (NARP); Mitochondrial Neuropathy, Gastro-Intestinal Encephalomyopathy (MNGIE); Myoclonus Epilepsy, Ragged-Red-Fibers (MERRF); Wilson's disease; Friedreich's ataxia. Diagnosis of mitochondrial encephalomyopathies is established by screening for mutations in blood or muscle biopsy samples. No specific therapies which influence the course of mitochondrial encephalomyopathies are known. Drugs interacting with the mitochondria function, alcohol consumption and smoking should be avoided.

    [Eye diseases in mitochondrial encephalomyopathies] Publishing Authors By Initials

    d mojonD Mojon,

    For similar pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research abstracts see: pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research

    PUBMED ID PMID:

    MEDLINE DATE:

    [Eye diseases in mitochondrial encephalomyopathies] Journal Published:

    PUBLICATION TYPE: Review

    Journal: Therapeutische Umschau. Revue thérapeutique

    VOLUME: 58

    Page Numbers: 49-55

    Journal Abbreviation:

    ISSN: 0040-5930

    DAY: 12

    MONTH: Jan

    YEAR: 2001

    [Eye diseases in mitochondrial encephalomyopathies] Information

    Number of References: 13

    LANGUAGE: ger

    NlmUniqueID: 407224

    [Eye diseases in mitochondrial encephalomyopathies] Keywords Mesh Terms:

    KEYWORDS: Syndrome

    MESH TERMS: genetics

    Chemical & Substance for Abstract: [Eye diseases in mitochondrial encephalomyopathies] Information

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    Grant and Affiliation Information for [Eye diseases in mitochondrial encephalomyopathies]

    AFFILIATION: Abteilung für Schielbehandlung und Neuroophthalmologie, Augenklinik, Kantonsspital St. Gallen. daniel.mojon@kssg.ch

    Country: Switzerland

    Switzerland Research PublicationSwitzerland Research Publication

    AGENCY:

    GRANT:

    ACRONYM:

    MEDLINETA: Ther Umsch

    REFSOURCE:

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