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A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence

Park YJ, Lim HT

PURPOSE: We report an unusual case of Leber hereditary optic neuropathy presenting with optic disc hyperfluorescence. CASE SUMMARY: A 17-year-old male with sequential painless visual loss 3 weeks apart affecting first...
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A Case of Atypical Leber Hereditary Optic Neuropathy Associated with MT-TL1 Gene Mutation Misdiagnosed with Glaucoma

Hahn IK, Lim HT

PURPOSE: Leber hereditary optic neuropathy (LHON) is one of the most common hereditary optic neuropathies caused by mutations of mitochondrial DNA. Three common mitochondrial mutations causing LHON are m.3460, m.11778,...
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Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures

Kim KS, Moon JS, Lee JH, Ha SW, Kang SJ, Kim MJ, Kim JK, Yoo BG

  • KMID: 2065616
  • J Korean Neurol Assoc.
  • 2006 Oct;24(5):498-502.
Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by acute or subacute visual loss associated with other neurologic diseases. We report a man with LHON caused by...
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Mitochondrial DNA Content and the MTND4 Gene Expression in Leber's Hereditary Optic Neuropathy

Seong MW, Kim JY, Ko HS, Hwang JM, Park SS

  • KMID: 2143217
  • Korean J Lab Med.
  • 2004 Dec;24(6):439-445.
BACKGROUND: Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral visual loss, primarily caused by a mitochondrial DNA (mtDNA) point mutation. However the pathogenic mechanism of visual...
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Ondine's Curse Consequent to Recurrent Respiratory Failure in a Man with Leber Hereditary Optic Neuropathy

Ha S, An SG, Lee SA

  • KMID: 2343097
  • J Korean Neurol Assoc.
  • 2004 Aug;22(4):414-417.
Leber's hereditary optic neuropathy (LHON) is a disease due to mitochondrial DNA mutations. We report a man with LHON, who presented with four episodes of respiratory failure. In the last...
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Molecular Genetic Study on Primary and Secondary Mitochondrial DNA Mutations of Leber's Hereditary Optic Neuropathy in Koreans

Hwang JM, Kim JY, Ko HS, Park SS, Chang BL

  • KMID: 2022104
  • J Korean Ophthalmol Soc.
  • 2003 May;44(5):1153-1158.
PURPOSE: In order to evaluate the spectrum of mitochondrial DNA (mtDNA) mutations in the patients with suspected Leber's hereditary optic neuropathy (LHON). METHODS: We investigated 14 primary mtDNA mutations at...
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Leber's Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation

Choi EJ, Lee SA, Ha JH, Ahn HS

  • KMID: 2186058
  • J Korean Neurol Assoc.
  • 2000 Mar;18(2):244-248.
Several mtDNA mutations have been reported in Leber's hereditary optic neuropathy (LHON) associated with dystonia since it was identified as having the 14459 mutation. We report a patient with LHON...
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Optic Neuropathy in Koreans I. Leber's Hereditary Optic Neuropathy

Kim SJ, Hwang JM, Chang BL, Park SS, Shin S, Yoon KY, Jung YC

  • KMID: 2336720
  • J Korean Ophthalmol Soc.
  • 1998 Sep;39(9):2152-2159.
No abstract available.
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Clinical Manifestations of Leber's Hereditary Optic Neuropathy with 11778 mtDNA Mutation

Kim SJ, Hwang JM, Park HW

  • KMID: 2123512
  • J Korean Ophthalmol Soc.
  • 1996 Aug;37(8):1389-1396.
Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA) and accounts for 30% of bilateral optic atrophy of unknown etiology. The authors found...
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A Mitochondrial Mutation in Leber's Hereditary Optic Neuropathy

Hwang JM, Park HW

  • KMID: 2205183
  • J Korean Ophthalmol Soc.
  • 1995 Dec;36(12):2218-2224.
Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA). We identified a single guanine to adenine transition mutation in the mitochondrial DNA at...
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Leber's Hereditary Optic Neuropathy in Two Brothers of a Family

Hur J, Sohn HY, Won IG

  • KMID: 2122947
  • J Korean Ophthalmol Soc.
  • 1990 Feb;31(2):241-248.
The Leber's hereditary optic neuropathy, which affects mainly males in the late teens or in the early twenties, is a rare inherited disorder characterized by bilateral rapid loss of central...
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Two Cases of Leber's Hereditary Optic Atrophy Occurred in Mother and Son

Park BG, Kim KS

  • KMID: 2204736
  • J Korean Ophthalmol Soc.
  • 1982 Sep;23(3):867-871.
Leber's hereditary optic atrophy is characterized by sudden loss of central vision occuringin the second and third decade of life and nondirect transmission with male preponderance, Leber disease affecting both...
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Three Cases of Leber's Hereditary Optic Atrophy in One Family

Park JC, Lee JH, Chang WU

  • KMID: 1665776
  • J Korean Ophthalmol Soc.
  • 1980 Sep;21(3):361-365.
The authors have experienced with three cases of Leber's hereditary optic atrophy one family which is a relatively rare condition characterized by acute or subacute failrure of central vision presenting...
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