메뉴 건너뛰기




Volumn 103, Issue 3, 1996, Pages 504-514

Ophthalmologic findings in Leber Hereditary Optic Neuropathy, with special reference to mtDNA mutations

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0029883737     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(96)30665-9     Document Type: Article
Times cited : (209)

References (35)
  • 1
    • 0000869712 scopus 로고
    • Primary LHON mutations: trying to separate “fruyt” from “chaff”
    • N Howell Primary LHON mutations: trying to separate “fruyt” from “chaff” Clin Neurosci 2 1994 130 137
    • (1994) Clin Neurosci , vol.2 , pp. 130-137
    • Howell, N1
  • 2
    • 0027380091 scopus 로고
    • When does bilateral optic atrophy become Leber hereditary optic neuropathy [letter]?
    • N Howell S Halvorson J Burns When does bilateral optic atrophy become Leber hereditary optic neuropathy [letter]? Am J Hum Genet 53 1993 959 963
    • (1993) Am J Hum Genet , vol.53 , pp. 959-963
    • Howell, N1    Halvorson, S2    Burns, J3
  • 3
    • 0027360029 scopus 로고
    • The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
    • K Huoponen T Lamminen V Juvonen The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Hum Genet 92 1993 379 384
    • (1993) Hum Genet , vol.92 , pp. 379-384
    • Huoponen, K1    Lamminen, T2    Juvonen, V3
  • 4
    • 0028221662 scopus 로고
    • Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome
    • RJ Oostra PA Bolhuis FA Wijburg Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome J Med Genet 31 1994 280 286
    • (1994) J Med Genet , vol.31 , pp. 280-286
    • Oostra, RJ1    Bolhuis, PA2    Wijburg, FA3
  • 5
    • 0028949749 scopus 로고
    • The clinical features of Leber hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • P Riordan-Eva MD Sanders GG Govan The clinical features of Leber hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain 118 1995 319 337
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P1    Sanders, MD2    Govan, GG3
  • 6
    • 0027977998 scopus 로고
    • Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
    • DA Mackey Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy Eye 8 1994 431 436
    • (1994) Eye , vol.8 , pp. 431-436
    • Mackey, DA1
  • 7
    • 0026495869 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation
    • DR Johns KH Smith NR Miller Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation Arch Ophthalmol 110 1992 1577 1581
    • (1992) Arch Ophthalmol , vol.110 , pp. 1577-1581
    • Johns, DR1    Smith, KH2    Miller, NR3
  • 8
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • NJ Newman MT Lott DC Wallace The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation Am J Ophthalmol 111 1991 750 762
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, NJ1    Lott, MT2    Wallace, DC3
  • 9
    • 0026746739 scopus 로고
    • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
    • D Mackey N Howell A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology Am J Hum Genet 51 1992 1218 1228
    • (1992) Am J Hum Genet , vol.51 , pp. 1218-1228
    • Mackey, D1    Howell, N2
  • 10
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
    • DR Johns KL Heher NR Miller KH Smith Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation Arch Ophthalmol 111 1993 495 498
    • (1993) Arch Ophthalmol , vol.111 , pp. 495-498
    • Johns, DR1    Heher, KL2    Miller, NR3    Smith, KH4
  • 11
    • 0001353580 scopus 로고
    • Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • MD Brown DC Wallace Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy Clin Neurosci 2 1994 138 145
    • (1994) Clin Neurosci , vol.2 , pp. 138-145
    • Brown, MD1    Wallace, DC2
  • 12
    • 0028074391 scopus 로고
    • Neuro-ophthalmology and systemic disease. An annual review (1993)
    • NJ Newman Neuro-ophthalmology and systemic disease. An annual review (1993) J Neuro-Ophthalmol 14 1994 105 117
    • (1994) J Neuro-Ophthalmol , vol.14 , pp. 105-117
    • Newman, NJ1
  • 13
    • 0019989454 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members
    • E Nikoskelainen WF Hoyt K Nummelin Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members Arch Ophthalmol 100 1982 1597 1602
    • (1982) Arch Ophthalmol , vol.100 , pp. 1597-1602
    • Nikoskelainen, E1    Hoyt, WF2    Nummelin, K3
  • 14
    • 0020602931 scopus 로고
    • Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. Fundus findings in the affected family members
    • E Nikoskelainen WF Hoyt K Nummelin Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. Fundus findings in the affected family members Arch Ophthalmol 101 1983 1059 1068
    • (1983) Arch Ophthalmol , vol.101 , pp. 1059-1068
    • Nikoskelainen, E1    Hoyt, WF2    Nummelin, K3
  • 15
    • 0022357985 scopus 로고
    • The clinical findings in Leber's hereditary optic neuropathy. Leber's disease
    • E Nikoskelainen The clinical findings in Leber's hereditary optic neuropathy. Leber's disease Trans Ophthalmol Soc UK 104 1985 845 852
    • (1985) Trans Ophthalmol Soc UK , vol.104 , pp. 845-852
    • Nikoskelainen, E1
  • 16
    • 0020954030 scopus 로고
    • Clinical and biochemical findings in Leber's hereditary optic atrophy
    • IG Syme J Bronte-Stewart WS Foulds Clinical and biochemical findings in Leber's hereditary optic atrophy Trans Ophthalmol Soc UK 103 1983 556 559
    • (1983) Trans Ophthalmol Soc UK , vol.103 , pp. 556-559
    • Syme, IG1    Bronte-Stewart, J2    Foulds, WS3
  • 17
    • 0029062843 scopus 로고
    • Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy
    • M Wakakura J Yokoe Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy Br J Ophthalmol 79 1995 442 446
    • (1995) Br J Ophthalmol , vol.79 , pp. 442-446
    • Wakakura, M1    Yokoe, J2
  • 18
    • 0000996534 scopus 로고
    • Genotype-specific phenotypes in Leber's hereditary optic neuropathy
    • DR Johns Genotype-specific phenotypes in Leber's hereditary optic neuropathy Clin Neurosci 2 1994 146 150
    • (1994) Clin Neurosci , vol.2 , pp. 146-150
    • Johns, DR1
  • 19
    • 0027180961 scopus 로고
    • Leber's hereditary optic neuropathy. New genetic considerations
    • NJ Newman Leber's hereditary optic neuropathy. New genetic considerations Arch Neurol 50 1993 540 548
    • (1993) Arch Neurol , vol.50 , pp. 540-548
    • Newman, NJ1
  • 20
    • 0008646419 scopus 로고
    • Leber's disease in the Netherlands
    • AHC van Senus Leber's disease in the Netherlands Doc Ophthalmol 17 1963 1 162
    • (1963) Doc Ophthalmol , vol.17 , pp. 1-162
    • van Senus, AHC1
  • 21
    • 0026554382 scopus 로고
    • Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
    • EM Stone NJ Newman NR Miller Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation J Clin Neuro-Ophthalmol 12 1992 10 14
    • (1992) J Clin Neuro-Ophthalmol , vol.12 , pp. 10-14
    • Stone, EM1    Newman, NJ2    Miller, NR3
  • 22
    • 0027358986 scopus 로고
    • An atypical Leber's hereditary, optic neuropathy with the 11778 mutation
    • Y Hotta M Hayakawa K Fujiki An atypical Leber's hereditary, optic neuropathy with the 11778 mutation Br J Ophthalmol 77 1993 748 750
    • (1993) Br J Ophthalmol , vol.77 , pp. 748-750
    • Hotta, Y1    Hayakawa, M2    Fujiki, K3
  • 23
    • 0025946466 scopus 로고
    • Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss
    • DM Jacobson EM Stone Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss J Clin Neuro-Ophthalmol 11 1991 152 157
    • (1991) J Clin Neuro-Ophthalmol , vol.11 , pp. 152-157
    • Jacobson, DM1    Stone, EM2
  • 24
    • 0028017901 scopus 로고
    • Is all nondefinable optic atrophy Leber's hereditary optic neuropathy?
    • N Swartz PJ Savino Is all nondefinable optic atrophy Leber's hereditary optic neuropathy? Surv Ophthalmol 39 1994 146 150
    • (1994) Surv Ophthalmol , vol.39 , pp. 146-150
    • Swartz, N1    Savino, PJ2
  • 25
    • 0027319729 scopus 로고
    • Atypical Leber's hereditary optic neuropathy with molecular confirmation
    • NC Weiner NJ Newman S Lessell Atypical Leber's hereditary optic neuropathy with molecular confirmation Arch Neurol 50 1993 470 473
    • (1993) Arch Neurol , vol.50 , pp. 470-473
    • Weiner, NC1    Newman, NJ2    Lessell, S3
  • 26
    • 0027460593 scopus 로고
    • Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood
    • CM Moorman JS Elston P Matthews Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood Pediatrics 91 1993 988 989
    • (1993) Pediatrics , vol.91 , pp. 988-989
    • Moorman, CM1    Elston, JS2    Matthews, P3
  • 27
    • 0025336365 scopus 로고
    • Variable genotype of Leber's hereditary optic neuropathy patients
    • MT Lott AS Voljavec DC Wallace Variable genotype of Leber's hereditary optic neuropathy patients Am J Ophthalmol 109 1990 625 631
    • (1990) Am J Ophthalmol , vol.109 , pp. 625-631
    • Lott, MT1    Voljavec, AS2    Wallace, DC3
  • 28
    • 0027485979 scopus 로고
    • Heteroplasmy in Leber's hereditary optic neuropathy
    • KH Smith DR Johns KL Heher NR Miller Heteroplasmy in Leber's hereditary optic neuropathy Arch Ophthalmol 111 1993 1486 1490
    • (1993) Arch Ophthalmol , vol.111 , pp. 1486-1490
    • Smith, KH1    Johns, DR2    Heher, KL3    Miller, NR4
  • 29
    • 0029064615 scopus 로고
    • Pedigree analysis in Leber hereditary optic neuropathy. Families with a pathogenic mtDNA mutation
    • AE Harding MG Sweeney GG Govan P Riordan-Eva Pedigree analysis in Leber hereditary optic neuropathy. Families with a pathogenic mtDNA mutation Am J Hum Genet 57 1995 77 86
    • (1995) Am J Hum Genet , vol.57 , pp. 77-86
    • Harding, AE1    Sweeney, MG2    Govan, GG3    Riordan-Eva, P4
  • 30
    • 0028121072 scopus 로고
    • Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy
    • K Huoponen V Juvonen A litia Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy Hum Mutat 3 1994 29 36
    • (1994) Hum Mutat , vol.3 , pp. 29-36
    • Huoponen, K1    Juvonen, V2    litia, A3
  • 31
    • 0028047624 scopus 로고
    • Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing
    • V Juvonen K Huoponen A-C Syvanen Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing Hum Genet 93 1994 16 20
    • (1994) Hum Genet , vol.93 , pp. 16-20
    • Juvonen, V1    Huoponen, K2    Syvanen, A-C3
  • 32
    • 0026034238 scopus 로고
    • Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7
    • J Vilkki J Ott M-L Savontaus Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7 Am J Hum Genet 48 1991 486 491
    • (1991) Am J Hum Genet , vol.48 , pp. 486-491
    • Vilkki, J1    Ott, J2    Savontaus, M-L3
  • 33
    • 0027483762 scopus 로고
    • Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
    • V Juvonen J Vilkki P Aula E Nikoskelainen M-L Savontaus Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON) Am J Hum Genet 53 1991 289 292
    • (1991) Am J Hum Genet , vol.53 , pp. 289-292
    • Juvonen, V1    Vilkki, J2    Aula, P3    Nikoskelainen, E4    Savontaus, M-L5
  • 34
    • 0025820109 scopus 로고
    • X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy; evidence from segregation analysis for dependence on X chromosome inactivation
    • X Bu J Rotter X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy; evidence from segregation analysis for dependence on X chromosome inactivation Proc Natl Acad Sci U S A 88 1991 8198 8202
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 8198-8202
    • Bu, X1    Rotter, J2
  • 35
    • 0028908634 scopus 로고
    • A mitochondrial mutation at nt 9 101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy
    • T Lamminen A Majander V Juvonen A mitochondrial mutation at nt 9 101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy Am J Hum Genet 56 1995 1238 1240
    • (1995) Am J Hum Genet , vol.56 , pp. 1238-1240
    • Lamminen, T1    Majander, A2    Juvonen, V3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.