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Volumn 26, Issue 10, 2003, Pages 1063-1066

Childhood Leber hereditary optic neuropathy. A case of a 6-year-old girl with loss of vision;Neuropathie optique de Leber de l'enfance. A propos d'un cas de baisse d'acuité visuelle chez une enfant de 6 ans

Author keywords

Central scotoma; Hereditary optical atrophy; Leber's hereditary optic neuropathy; Low visual acuity; Mitochondrial DNA; Primary mutation G11778A

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

EID: 0345871286     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (21)
  • 1
    • 34447600937 scopus 로고
    • Ueber hereditaere und congenital angelegte Sehnervenleiden
    • Leber T. Ueber hereditaere und congenital angelegte Sehnervenleiden. Graefes Arch Ophthalmol, 1871;17:249-91.
    • (1871) Graefes Arch Ophthalmol , vol.17 , pp. 249-291
    • Leber, T.1
  • 3
  • 4
    • 0013887061 scopus 로고
    • Further clinical and pathological observations on Leber's optic atrophy
    • Adams JH, Blackwood W, Wilson J. Further clinical and pathological observations on Leber's optic atrophy. Brain, 1966;89:15-26.
    • (1966) Brain , vol.89 , pp. 15-26
    • Adams, J.H.1    Blackwood, W.2    Wilson, J.3
  • 6
    • 0036126863 scopus 로고    scopus 로고
    • Irreversible disability and tissue loss in multiple sclerosis: A conventional and magnetization transfer magnetic resonance imaging study of the optic nerves
    • Inglese M, Ghezzi A, Bianchi S, Gerevini S, Sormani MP, Martinelli V et al. Irreversible disability and tissue loss in multiple sclerosis: a conventional and magnetization transfer magnetic resonance imaging study of the optic nerves. Arch Neurol, 2002;59:250-5.
    • (2002) Arch Neurol , vol.59 , pp. 250-255
    • Inglese, M.1    Ghezzi, A.2    Bianchi, S.3    Gerevini, S.4    Sormani, M.P.5    Martinelli, V.6
  • 7
    • 0035878586 scopus 로고    scopus 로고
    • Magnetization transfer and diffusion tensor MR imaging of the optic radiations and calcarine cortex from patients with Leber's hereditary optic neuropathy
    • Inglese M, Rovaris M, Bianchi S, Comi G, Filippi M. Magnetization transfer and diffusion tensor MR imaging of the optic radiations and calcarine cortex from patients with Leber's hereditary optic neuropathy. J Neurol Sci, 2001;188:33-6.
    • (2001) J Neurol Sci , vol.188 , pp. 33-36
    • Inglese, M.1    Rovaris, M.2    Bianchi, S.3    Comi, G.4    Filippi, M.5
  • 8
    • 0026702249 scopus 로고
    • Leber's hereditary optic neuropathy; a model for mitochondrial neurodegenerative diseases
    • Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC. Leber's hereditary optic neuropathy; a model for mitochondrial neurodegenerative diseases. FASEB J, 1992;6:2791-9.
    • (1992) FASEB J , vol.6 , pp. 2791-2799
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    MacDonald, I.4    Wallace, D.C.5
  • 9
    • 0025341690 scopus 로고
    • Mitochondria and Leber's hereditary optic neuropathy
    • Newman NJ, Wallace DC. Mitochondria and Leber's hereditary optic neuropathy. Am J Ophthalmol, 1990; 109:726-30.
    • (1990) Am J Ophthalmol , vol.109 , pp. 726-730
    • Newman, N.J.1    Wallace, D.C.2
  • 10
    • 0036155708 scopus 로고    scopus 로고
    • Diagnosis and management of mitochondrial diseases
    • Gillis L, Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin North Am, 2002;49:203-19
    • (2002) Pediatr Clin North Am , vol.49 , pp. 203-219
    • Gillis, L.1    Kaye, E.2
  • 11
    • 0033137096 scopus 로고    scopus 로고
    • Functional consequences of the 3640-bp mitochondrial DNA mutation associated with Leber's hereditaty optic neuropathy
    • Cock HR, Cooper JM, Schapira HV. Functional consequences of the 3640-bp mitochondrial DNA mutation associated with Leber's hereditaty optic neuropathy. J Neurol Sci, 1999;165:10-7.
    • (1999) J Neurol Sci , vol.165 , pp. 10-17
    • Cock, H.R.1    Cooper, J.M.2    Schapira, H.V.3
  • 12
    • 0033137153 scopus 로고    scopus 로고
    • The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
    • Brown MD. The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy. J Neurol Sci, 1999;165:1-5.
    • (1999) J Neurol Sci , vol.165 , pp. 1-5
    • Brown, M.D.1
  • 13
    • 0035404936 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Clinical and molecular genetic findings
    • Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics, 2001;3:119-25.
    • (2001) Neurogenetics , vol.3 , pp. 119-125
    • Huoponen, K.1
  • 15
    • 0032078333 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Respiratory chain dysfunction and degeneration of the optic nerve
    • Howell N. Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. Vision Res, 1998;38:1495-504.
    • (1998) Vision Res , vol.38 , pp. 1495-1504
    • Howell, N.1
  • 16
    • 0032993159 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy
    • Chalmers RM, Schapira AH. Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy. Biochim Biophys Acta, 1999;1410:147-58.
    • (1999) Biochim Biophys Acta , vol.1410 , pp. 147-158
    • Chalmers, R.M.1    Schapira, A.H.2
  • 17
    • 0032772045 scopus 로고    scopus 로고
    • The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?
    • Gray RG, Green SH, Davies P, Alger S, Green A. The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression? J Inherit Metab Dis, 1999;22:760-1.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 760-761
    • Gray, R.G.1    Green, S.H.2    Davies, P.3    Alger, S.4    Green, A.5
  • 19
    • 0035892808 scopus 로고    scopus 로고
    • Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
    • Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet, 2001;104:331-8.
    • (2001) Am J Med Genet , vol.104 , pp. 331-338
    • Brown, M.D.1    Allen, J.C.2    Van Stavern, G.P.3    Newman, N.J.4    Wallace, D.C.5
  • 20
    • 84975452084 scopus 로고    scopus 로고
    • Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
    • Mashima Y, Kigasawa K, Wakakura M, Oguchi Y. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuroophthalmol, 2000;20:166-70.
    • (2000) J Neuroophthalmol , vol.20 , pp. 166-170
    • Mashima, Y.1    Kigasawa, K.2    Wakakura, M.3    Oguchi, Y.4
  • 21
    • 0035755915 scopus 로고    scopus 로고
    • Past, present, and future in Leber's hereditary optic neuropathy
    • Oguchi Y. Past, present, and future in Leber's hereditary optic neuropathy. Nippon Ganka Gakkai Zasshi, 2001;105:809-27.
    • (2001) Nippon Ganka Gakkai Zasshi , vol.105 , pp. 809-827
    • Oguchi, Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.