Leber's Hereditary Optic Neuropathy

Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778

“…However, it is likely that the prevalence of the nt3460 mutation in Japanese patients with LHON may be higher than previously thought, in the light of our finding of one patient with this mutation in the present screening of a small number of patients with idiopathic optic neuropathy. Patients with LHON and the nt3460 mutation are thought to have better visual function than those with the nt11,778 mutation (Johns et al 1992b;Joo et al 1996;Nakamura et al 1994;Newman 1993;Nikoskelainen et al 1996). Patient 2 in the present study also had relatively good visual acuity in both eyes.…”

“…Of the 17 mutations, 3 are thought to be primary, and the presence of these three greatly increases the possibility of blindness (Brown et al 1997). Mutations in mtDNA have been commonly reported at mucleotide positions (nt) 11,778, 3460, 14,484, 9438, 9804, and 15,257 (Wallace et al 1988;Fujiki et al 1991;Huoponen et al 1991;Majander et al 1991;Johns et al 1992a and1992b;Johns and Neufeld 1993;Mashima et al 1993;Newman 1993;Nakamura et al 1994;Oostra et al 1994;Hotta et al 1995;Riordan-Eva et al 1995;Fujimaki et al 1996;Ghosh et al 1996;Joo et al 1996;Nikoskelainen et al 1996). A high frequency of mtDNA mutations at nt11,778 has been reported in Japanese patients with the disease (Fujiki et al 1991;Mashima et al 1993;Hotta et al 1995).…”

Hereditary optic neuropathies

“…[5][6][7][8][9][10][11][12][13][14] Since the late 1980s, LHON has received notoriety as a maternally inherited disease linked to abnormalities in mitochondrial DNA. 2,7,9,11,[14][15][16][17][18][19][20] Genetic analysis has broadened our view of what constitutes the clinical presentation of LHON.…”

“…We have termed these pedigrees 'Leber's Plus'. 16 The maternal members of a large Australian family demonstrate varied combinations of optic atrophy, movement disorders, spasticity, psychiatric disturbances, skeletal abnormalities, and acute infantile encephalopathic episodes. 44 A Leber's-like optic neuropathy has been associated with dystonia and basal gangliar lesions in several pedigrees.…”

“…2,16 Most striking are the number of patients without a family history of visual loss. Although there is undoubtedly a referral bias for the unusual cases, it is still quite remarkable that singleton cases constituted 57% of one series of molecularly confirmed LHON.…”