Clinical Neuroscience

[The genetic diagnosis of leber's hereditary optic neuropathy]

HORVÁTH Rita1, ERIC A. Shoubridge2, KATHERINE Fu2, SOMLAI Judit3, HAJDA Márta4, KARCAGI Veronika5, KOMOLY Sámuel1

MAY 20, 1997

Clinical Neuroscience - 1997;50(05-06)

[We observed the occurence of Leber's hereditary optic neuropathy associated mitochondrial point mutations in patients with bilateral optic neuropathy. DNA samples isolated from peripheral venous blood by the phenol/chloroform method were tested with the help of PCR for the pathogenic Leber's hereditary optic neuropathy associated mitochondrial point mutations. From 14 patients suffering from bilateral visual impairment Leber's hereditary optic neuropathy associated mitochondrial point mutations were found in 5 cases. The patients were previously treated with optic neuritis or with toxic optic neuropathy. By testing the relatives of the patients some asymp tomatic Leber positive cases were observed, too. The diagnosis of Leber's hereditary optic neuropathy is based on the occurence of mitochondrial point mutations. To test for these mutations can help in the clinical practice in diagnosing bilateral optic neuropathies. In patients with the pathogenic Leber mutations the development of the clinical symptoms does not occure necessarily, however the other mechanisms determining the clinical picture are not known so far.]

AFFILIATIONS

  1. Jahn Ferenc Kórház, Neurológiai Osztály, Budapest
  2. Montreal Neurological Institute, Department of Molecular Neurogenetics, Montreal
  3. MÁV Kórház, Neuroophthalamologiai Ambulancia, Budapest
  4. Országos Idegsebészeti Tudományos Intézet, Szemészeti Osztály, Budapest
  5. Országos Johan Béla Közegészségügyi Intézet, Biokémiai Osztály, Budapest

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