메뉴 건너뛰기




Volumn 18, Issue 11, 2004, Pages 1126-1132

Molecular genetic basis of primary inherited optic neuropathies

Author keywords

Inherited optic neuropathy; Leber hereditary optic neuropathy (LHON): Retinal ganglion cell (RGC) OPA1

Indexed keywords

MITOCHONDRIAL DNA;

EID: 9944256480     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.eye.6701570     Document Type: Review
Times cited : (49)

References (72)
  • 2
    • 0036201576 scopus 로고    scopus 로고
    • Genetic basis of glaucoma
    • WuDunn D. Genetic basis of glaucoma. Curr Opin Ophthalmol 2002; 13: 55-60.
    • (2002) Curr. Opin. Ophthalmol. , vol.13 , pp. 55-60
    • WuDunn, D.1
  • 4
    • 0026088551 scopus 로고
    • The incidence of abnormal pattern electroretinography in optic nerve demyelination
    • Holder GE. The incidence of abnormal pattern electroretinography in optic nerve demyelination. Electroenceph Clin Neurophysiol 1991; 78: 18-26.
    • (1991) Electroenceph. Clin. Neurophysiol. , vol.78 , pp. 18-26
    • Holder, G.E.1
  • 6
    • 0022652982 scopus 로고
    • Mitotic segregation of mitochondrial DNAs in human cell hybrids and the expression of chloramphenicol resistance
    • Wallace DC. Mitotic segregation of mitochondrial DNAs in human cell hybrids and the expression of chloramphenicol resistance. Som Cell Molec Genet 1986; 12: 41-49.
    • (1986) Som. Cell Molec. Genet. , vol.12 , pp. 41-49
    • Wallace, D.C.1
  • 9
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TJ, Lezza AMS et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3    Hodge, J.A.4    Schurr, T.J.5    Lezza, A.M.S.6
  • 10
    • 0025944560 scopus 로고
    • Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigress
    • Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigress. Am J Hum Genet 1991; 49: 939-950.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 939-950
    • Howell, N.1    Bindoff, L.A.2    McCullough, D.A.3    Kubacka, I.4    Poulton, J.5    Mackey, D.6
  • 11
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1992; 187: 1551-1557.
    • (1992) Biochem. Biophys. Res. Commun. , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 12
    • 0026746739 scopus 로고
    • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
    • Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992; 51: 1218-1228.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1218-1228
    • Mackey, D.1    Howell, N.2
  • 14
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at np14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia
    • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at np14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia. Proc Nat Acad Sci 1994; 91: 6206-6210.
    • (1994) Proc. Nat. Acad. Sci. , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 16
    • 0027360029 scopus 로고
    • The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neurorefinopathy
    • Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neurorefinopathy. Hum Genet 1993; 92 379-384.
    • (1993) Hum. Genet. , vol.92 , pp. 379-384
    • Huoponen, K.1    Lamminen, T.2    Juvonen, V.3    Aula, P.4    Nikoskelainen, E.5    Savontaus, M.L.6
  • 17
    • 0026337654 scopus 로고
    • Cytochrome b mutations in Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1991; 181: 1358-1364.
    • (1991) Biochem. Biophys. Res. Commun. , vol.181 , pp. 1358-1364
    • Johns, D.R.1    Neufeld, M.J.2
  • 18
    • 0027425369 scopus 로고
    • Cytochrome c oxidase mutations in Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1993; 196: 810-815.
    • (1993) Biochem. Biophys. Res. Commun. , vol.196 , pp. 810-815
    • Johns, D.R.1    Neufeld, M.J.2
  • 19
    • 0028928397 scopus 로고
    • Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees
    • Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA, Mackey D. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995; 140: 285-302.
    • (1995) Genetics , vol.140 , pp. 285-302
    • Howell, N.1    Kubacka, I.2    Halvorson, S.3    Howell, B.4    McCullough, D.A.5    Mackey, D.6
  • 20
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991; 111: 750-762.
    • (1991) Am. J. Ophthalmol. , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 21
    • 0025820109 scopus 로고
    • X-chromosome linked and mitochondrial gene control of Leber's hereditary optic neuropathy: Evidence from segregation analysis for dependence on X chromosome inactivation
    • Bu X, Rotter JI. X-chromosome linked and mitochondrial gene control of Leber's hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Nat Acad Sci, USA 1991; 88: 8198-8202.
    • (1991) Proc. Nat. Acad. Sci. USA , vol.88 , pp. 8198-8202
    • Bu, X.1    Rotter, J.I.2
  • 22
    • 0027483762 scopus 로고
    • Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuropathy (LHON)
    • Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus ML. Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuropathy (LHON). Am J Hum Genet 1993; 53: 289-292.
    • (1993) Am J. Hum. Genet. , vol.53 , pp. 289-292
    • Juvonen, V.1    Vilkki, J.2    Aula, P.3    Nikoskelainen, E.4    Savontaus, M.L.5
  • 23
    • 0036897159 scopus 로고    scopus 로고
    • Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations
    • Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM et al. Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations. J Neuroophthalmol 2002; 22: 262-269.
    • (2002) J. Neuroophthalmol. , vol.22 , pp. 262-269
    • Howell, N.1    Miller, N.R.2    Mackey, D.A.3    Arnold, A.4    Herrnstadt, C.5    Williams, I.M.6
  • 24
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
    • Johns DR, Heher KL, Miller NR, Smith KH. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation: Arch Ophthalmol 1993; 111:495-498.
    • (1993) Arch. Ophthalmol. , vol.111 , pp. 495-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3    Smith, K.H.4
  • 26
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Costa JD, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319-337.
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3    Sweeney, M.G.4    Costa, J.D.5    Harding, A.E.6
  • 27
    • 0028945657 scopus 로고
    • Leber's hereditary optic neuropathy: The clinical relevance of different mitochondrial DNA mutations
    • Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995; 32: 81-87.
    • (1995) J. Med. Genet. , vol.32 , pp. 81-87
    • Riordan-Eva, P.1    Harding, A.E.2
  • 28
    • 0035931511 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
    • Chinnery PF, Andrews RM, Turnbull DM, Howell N. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet 2001; 98: 235-243.
    • (2001) Am. J. Med. Genet. , vol.98 , pp. 235-243
    • Chinnery, P.F.1    Andrews, R.M.2    Turnbull, D.M.3    Howell, N.4
  • 29
    • 0036182712 scopus 로고    scopus 로고
    • Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies
    • Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002; 40: 573-584.
    • (2002) Neurochem. Int. , vol.40 , pp. 573-584
    • Carelli, V.1    Ross-Cisneros, F.N.2    Sadun, A.A.3
  • 31
    • 0030806721 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve
    • Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res 1997; 37: 3495-3507.
    • (1997) Vision Res. , vol.37 , pp. 3495-3507
    • Howell, N.1
  • 32
    • 0034704125 scopus 로고    scopus 로고
    • Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778 or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • Brown MD, Trounce IA, Jun AS, Allen JC, Wallace DC. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778 or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem 2000; 275: 39831-39836.
    • (2000) J. Biol. Chem. , vol.275 , pp. 39831-39836
    • Brown, M.D.1    Trounce, I.A.2    Jun, A.S.3    Allen, J.C.4    Wallace, D.C.5
  • 33
    • 0030881830 scopus 로고    scopus 로고
    • In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy
    • Lodi R, Taylor DJ, Tabrizi SJ, Kumar S, Sweeney M, Wood NW et al. In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy. Ann Neurol 1997; 42: 573-579.
    • (1997) Ann. Neurol. , vol.42 , pp. 573-579
    • Lodi, R.1    Taylor, D.J.2    Tabrizi, S.J.3    Kumar, S.4    Sweeney, M.5    Wood, N.W.6
  • 34
    • 0036259160 scopus 로고    scopus 로고
    • Phosphorous MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy
    • Lodi R, carelli V, Cortelli P, Iotti S, Valentino ML, Barboni P et al. Phosphorous MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J Neurol, Neurosurg and Psychiatry 2002; 72: 805-807.
    • (2002) J. Neurol. Neurosurg. and Psychiatry , vol.72 , pp. 805-807
    • Lodi, R.1    Carelli, V.2    Cortelli, P.3    Iotti, S.4    Valentino, M.L.5    Barboni, P.6
  • 36
    • 0028264428 scopus 로고
    • Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
    • Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet 1994; 3: 977-980.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 977-980
    • Eiberg, H.1    Kjer, B.2    Kjer, P.3    Rosenberg, T.4
  • 37
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    • Alexander C, Votruba M, Pesch U, Thiselton D, Mayer S, Moore A et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature Genet 2000; 26: 211-215.
    • (2000) Nature Genet. , vol.26 , pp. 211-215
    • Alexander, C.1    Votruba, M.2    Pesch, U.3    Thiselton, D.4    Mayer, S.5    Moore, A.6
  • 38
    • 20244381365 scopus 로고    scopus 로고
    • Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
    • Delettre C, Lenaers G, Griffoin J, Gigarel N, Lorenzo C, Belenguer P et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nature Genet 2000; 26: 207-210.
    • (2000) Nature Genet. , vol.26 , pp. 207-210
    • Delettre, C.1    Lenaers, G.2    Griffoin, J.3    Gigarel, N.4    Lorenzo, C.5    Belenguer, P.6
  • 39
    • 0033028406 scopus 로고    scopus 로고
    • Genetic heterogenity of dominant optic atrophy, Kjer type - Identification of a second locus on chromosome 18q12.2-12.3
    • Kerrison JB, Arnould VJ, Sallum JMF, Vagefi MR, Barmada MM, Li YY et al. Genetic heterogenity of dominant optic atrophy, Kjer type - Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol 1999; 117: 805-810.
    • (1999) Arch. Ophthalmol. , vol.117 , pp. 805-810
    • Kerrison, J.B.1    Arnould, V.J.2    Sallum, J.M.F.3    Vagefi, M.R.4    Barmada, M.M.5    Li, Y.Y.6
  • 40
    • 0037013266 scopus 로고    scopus 로고
    • Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization and effect on mitochondrial morphology
    • Misaka T, Miyashita T, Kubo Y. Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization and effect on mitochondrial morphology. J Biol Chem 2002; 277: 15834-15842.
    • (2002) J. Biol. Chem. , vol.277 , pp. 15834-15842
    • Misaka, T.1    Miyashita, T.2    Kubo, Y.3
  • 43
    • 0035875085 scopus 로고    scopus 로고
    • OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
    • Pesch AEA, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E et al. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 2001; 10: 1359-1368.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1359-1368
    • Pesch, A.E.A.1    Leo-Kottler, B.2    Mayer, S.3    Jurklies, B.4    Kellner, U.5    Apfelstedt-Sylla, E.6
  • 44
    • 0035182161 scopus 로고    scopus 로고
    • A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atroophy in the Danish population: Evidence for a founder effect
    • Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H et al. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atroophy in the Danish population: evidence for a founder effect. Hum Genet 2001; 109 498-502.
    • (2001) Hum. Genet. , vol.109 , pp. 498-502
    • Thiselton, D.L.1    Alexander, C.2    Morris, A.3    Brooks, S.4    Rosenberg, T.5    Eiberg, H.6
  • 45
  • 47
    • 0036676330 scopus 로고    scopus 로고
    • Deletion of the OPA1 gene in a dominant optic atrophy family: Evidence that haploinsufficiency is the cause of disease
    • Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF et al. Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet 2002; 39: e47.
    • (2002) J. Med. Genet. , vol.39
    • Marchbank, N.J.1    Craig, J.E.2    Leek, J.P.3    Toohey, M.4    Churchill, A.J.5    Markham, A.F.6
  • 48
    • 0037125183 scopus 로고    scopus 로고
    • The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
    • Olichon A, Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N et al. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett 2002; 523: 171-176.
    • (2002) FEBS Lett. , vol.523 , pp. 171-176
    • Olichon, A.1    Emorine, L.J.2    Descoins, E.3    Pelloquin, L.4    Brichese, L.5    Gas, N.6
  • 49
    • 0037427529 scopus 로고    scopus 로고
    • Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria
    • Satoh M, Hamamoto T, Seo N, Kagawa Y, Endo H. Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria. Biochem Biophys Res Commun 2002; 300: 482-493.
    • (2002) Biochem. Biophys. Res. Commun. , vol.300 , pp. 482-493
    • Satoh, M.1    Hamamoto, T.2    Seo, N.3    Kagawa, Y.4    Endo, H.5
  • 50
    • 0037424239 scopus 로고    scopus 로고
    • Loss of OPA1 pertubates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
    • Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P et al. Loss of OPA1 pertubates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003; 7: 7743-7746.
    • (2003) J. Biol. Chem. , vol.7 , pp. 7743-7746
    • Olichon, A.1    Baricault, L.2    Gas, N.3    Guillou, E.4    Valette, A.5    Belenguer, P.6
  • 53
    • 0842321583 scopus 로고    scopus 로고
    • Gene structure and chromosomal localization of mouse Opa1: Its exclusion from the Bst locus
    • Delettre C, Lenaers G, Belenguer P, Hamel CP. Gene structure and chromosomal localization of mouse Opa1: its exclusion from the Bst locus. BMC Genet 2003; 4: 8.
    • (2003) BMC Genet. , vol.4 , pp. 8
    • Delettre, C.1    Lenaers, G.2    Belenguer, P.3    Hamel, C.P.4
  • 54
    • 0006177802 scopus 로고
    • Different types of hereditary optic atrophy
    • Waardenburg PJ. Different types of hereditary optic atrophy. Acta Genet Statist Med 1957; 7: 287-290.
    • (1957) Acta Genet. Statist. Med. , vol.7 , pp. 287-290
    • Waardenburg, P.J.1
  • 55
    • 0035205389 scopus 로고    scopus 로고
    • Type III 3-methylglutaconic aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
    • Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001; 69: 1218-1224.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1218-1224
    • Anikster, Y.1    Kleta, R.2    Shaag, A.3    Gahl, W.A.4    Elpeleg, O.5
  • 56
    • 0346025678 scopus 로고    scopus 로고
    • A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q
    • advance online publication doi:10.1038/sj.ejhg.5201070
    • Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D et al. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Eur J Hum Genet 2003; advance online publication doi:10.1038/sj.ejhg.5201070.
    • (2003) Eur. J. Hum. Genet.
    • Barbet, F.1    Gerber, S.2    Hakiki, S.3    Perrault, I.4    Hanein, S.5    Ducroq, D.6
  • 58
    • 0016606758 scopus 로고
    • Mol ECDV-d, Volker-Dieben HJ. A family with apparently sex-finked optic atrophy
    • Went LN, Mol ECDV-d, Volker-Dieben HJ. A family with apparently sex-finked optic atrophy. J Med Genet 1975; 12: 94-98.
    • (1975) J. Med. Genet. , vol.12 , pp. 94-98
    • Went, L.N.1
  • 60
    • 0033941238 scopus 로고    scopus 로고
    • Accuracy and implications of a reported family history of glaucoma: Experience from the Glaucoma Inheritance Study in Tasmania
    • McNaught AI, Allen JG, Healey DL, McCartney PJ, Coote MA, Wong TL et al. Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania. Arch Ophthalmol 2000; 118: 900-904.
    • (2000) Arch. Ophthalmol. , vol.118 , pp. 900-904
    • McNaught, A.I.1    Allen, J.G.2    Healey, D.L.3    McCartney, P.J.4    Coote, M.A.5    Wong, T.L.6
  • 62
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • Stoilov I, Akarsu AN, Sarfarazi M. Identification of three truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997; 6: 641-647.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 64
    • 18244385269 scopus 로고    scopus 로고
    • Adult-onset primary open-angle glaucoma caused by mutations in optineurin
    • Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295: 1077-1079.
    • (2002) Science , vol.295 , pp. 1077-1079
    • Rezaie, T.1    Child, A.2    Hitchings, R.3    Brice, G.4    Miller, L.5    Coca-Prados, M.6
  • 65
    • 0344889215 scopus 로고    scopus 로고
    • Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
    • Fingert JH, Heon E, Liemann JM, Yamamoto T, Craig JE, Rait J et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8: 899-905.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 899-905
    • Fingert, J.H.1    Heon, E.2    Liemann, J.M.3    Yamamoto, T.4    Craig, J.E.5    Rait, J.6
  • 66
    • 0036461078 scopus 로고    scopus 로고
    • A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene
    • Aung T, Ocaka L, Ebeneezer N, Morris A, Krawczak M, Thiselton DL et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet 2002; 110: 52-56.
    • (2002) Hum. Genet. , vol.110 , pp. 52-56
    • Aung, T.1    Ocaka, L.2    Ebeneezer, N.3    Morris, A.4    Krawczak, M.5    Thiselton, D.L.6
  • 67
    • 0036590018 scopus 로고    scopus 로고
    • Investigating the association between OPA1 polymorphisms and glaucoma: Comparison between normal tension and high tension primary open angle glaucoma
    • Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH et al. Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Hum Genet 2002; 110: 513-514.
    • (2002) Hum. Genet. , vol.110 , pp. 513-514
    • Aung, T.1    Ocaka, L.2    Ebenezer, N.D.3    Morris, A.G.4    Brice, G.5    Child, A.H.6
  • 68
    • 0031845868 scopus 로고    scopus 로고
    • Normal tension glaucoma - A practical approach
    • Kamal D, Hitchings R. Normal tension glaucoma - a practical approach. Br J Ophthalmol 1998; 82: 835-840.
    • (1998) Br. J. Ophthalmol. , vol.82 , pp. 835-840
    • Kamal, D.1    Hitchings, R.2
  • 69
    • 0036892131 scopus 로고    scopus 로고
    • Is normal tension glaucoma actually an unrecognised hereditary optic neuropathy? New evidence from genetic analysis
    • Buono LM, Foroozan R, Sergott RC, Savino PJ. Is normal tension glaucoma actually an unrecognised hereditary optic neuropathy? New evidence from genetic analysis. Curr Opin Ophthalmol 2002; 13: 362-370.
    • (2002) Curr. Opin. Ophthalmol. , vol.13 , pp. 362-370
    • Buono, L.M.1    Foroozan, R.2    Sergott, R.C.3    Savino, P.J.4
  • 70
    • 0034873262 scopus 로고    scopus 로고
    • Disc excavation in dominant optic atrophy: Differentiation from normal tension glaucoma
    • Fournier AV, Damj KF, Epstein DL, Pollock SC. Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma. Ophthalmology 2001; 108: 1595-1602.
    • (2001) Ophthalmology , vol.108 , pp. 1595-1602
    • Fournier, A.V.1    Damj, K.F.2    Epstein, D.L.3    Pollock, S.C.4
  • 71
    • 0037235396 scopus 로고    scopus 로고
    • Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
    • Votruba M, Thiselton D, Bhattacharya S. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol 2003; 87: 48-53.
    • (2003) Br. J. Ophthalmol. , vol.87 , pp. 48-53
    • Votruba, M.1    Thiselton, D.2    Bhattacharya, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.