- Three Cases of Leber's Hereditary Optic Atrophy in One Family
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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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- Clinical Manifestations of Leber's Hereditary Optic Neuropathy with 11778 mtDNA Mutation
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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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- Leber's Hereditary Optic Neuropathy in Two Brothers of a Family
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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
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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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- A Mitochondrial Mutation in Leber's Hereditary Optic Neuropathy
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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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- A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence
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Park YJ, Lim HT
- KMID: 2431847
- J Korean Ophthalmol Soc.
- 2019 Jan;60(1):96-101.
- doi: 10.3341/jkos.2019.60.1.96
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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- Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA
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Nakaso K, Adachi Y, Fusayasu E, Doi K, Imamura K, Yasui K, Nakashima
- KMID: 2287596
- J Clin Neurol.
- 2012 Sep;8(3):230-234.
- doi: 10.3988/jcn.2012.8.3.230
BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of "LHON... -
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- Optic Neuropathy in Koreans I. Leber's Hereditary Optic Neuropathy
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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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- Ondine's Curse Consequent to Recurrent Respiratory Failure in a Man with Leber Hereditary Optic Neuropathy
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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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- A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA
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Jung YS, Park SK, Lee SY, Hah JS, Park MY, Lee SJ, Lee J
- KMID: 1969409
- Yeungnam Univ J Med.
- 1999 Jun;16(1):114-118.
- doi: 10.12701/yujm.1999.16.1.114
Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON... -
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- Leber's Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation
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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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- Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Presenting with Various Types of Seizures
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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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- Leber's hereditary optic neuropathy(LHON) and leber's plus with mtDNA 11778 mutation: Clinical manifestations and a genealogic study
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Kwon SU, Hwang JM, Park HW, Kang DW, Koo JS, Lee KW, Roh JK
- KMID: 2442960
- J Korean Neurol Assoc.
- 1997 Apr;15(2):331-339.
Leber's hereditary optic neuropathy (LHON) is an important cause of bilateral optic neuropathy in youth and occasionally associated with other neurological abnormalities (Leber's plus). The authors recently found out one... -
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- A Case of Atypical Leber Hereditary Optic Neuropathy Associated with MT-TL1 Gene Mutation Misdiagnosed with Glaucoma
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Hahn IK, Lim HT
- KMID: 2367853
- J Korean Ophthalmol Soc.
- 2017 Jan;58(1):117-123.
- doi: 10.3341/jkos.2017.58.1.117
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 3460 Mitochondrial DNA Mutation
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Hwang JM, Chang BL, Koh HJ, Kim JY, Park SS
- KMID: 648694
- J Korean Med Sci.
- 2002 Apr;17(2):283-286.
- doi: 10.3346/jkms.2002.17.2.283
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease causing acute or subacute, bilateral optic atrophy mainly in young men. It is found to be a mitochondrial disorder with... -
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- Molecular Genetic Study on Primary and Secondary Mitochondrial DNA Mutations of Leber's Hereditary Optic Neuropathy in Koreans
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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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- Visual Prognosis of Leber's Hereditary Optic Neuropathy with T14484C Mitochondrial DNA Mutation in Koreans
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Kim MJ, Park SS, Hwang JM
- KMID: 2215258
- J Korean Ophthalmol Soc.
- 2012 Jan;53(1):151-156.
- doi: 10.3341/jkos.2012.53.1.151
PURPOSE: In order to evaluate the clinical features and visual prognosis of Leber's hereditary optic neuropathy (LHON) associated with T14484C mitochondrial DNA (mtDNA) mutation in Korean patients. METHODS: To evaluate the... -
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- Leber's Hereditary Optic Neuropathy in a Patient Diagnosed With Normal Tension Glaucoma: A Case Report
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Lee S, Choi J, Jang JW, Kim DM, Kim SJ
- KMID: 2214149
- J Korean Ophthalmol Soc.
- 2011 Jan;52(1):122-127.
- doi: 10.3341/jkos.2011.52.1.122
PURPOSE: Leber's hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA. The authors report a case of a middle-aged man with genetically confirmed LHON, combined with bilateral... -
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- Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report
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Kim IS, Ki CS, Park KJ
- KMID: 1713855
- J Korean Med Sci.
- 2010 Jan;25(1):180-184.
- doi: 10.3346/jkms.2010.25.1.180
We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been... -
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- Mitochondrial DNA Content and the MTND4 Gene Expression in Leber's Hereditary Optic Neuropathy
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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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