메뉴 건너뛰기




Volumn 116, Issue 3, 1998, Pages 351-358

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 3Q; DISEASE SEVERITY; EVOKED VISUAL RESPONSE; FEMALE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; OPTIC NERVE ATROPHY; PEDIGREE ANALYSIS; PERIPHERAL VISION; PRIORITY JOURNAL; VISUAL ACUITY;

EID: 0031915967     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.116.3.351     Document Type: Article
Times cited : (141)

References (51)
  • 1
    • 84924064715 scopus 로고
    • Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families
    • Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol. 1959;37(suppl 54):1-146.
    • (1959) Acta Ophthalmol. , vol.37 , Issue.54 SUPPL. 5 , pp. 1-146
    • Kjer, P.1
  • 2
    • 0027447960 scopus 로고
    • Visual prognosis in autosomal dominant optic atrophy (Kjer type)
    • Eliott MD. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993:115:360-367.
    • (1993) Am J Ophthalmol. , vol.115 , pp. 360-367
    • Eliott, M.D.1
  • 3
    • 0010249907 scopus 로고
    • A family suffering from hereditary optic atrophy
    • Batten B. A family suffering from hereditary optic atrophy. Trans Ophthalmol Soc U K.1896;16:125.
    • (1896) Trans Ophthalmol Soc U K. , vol.16 , pp. 125
    • Batten, B.1
  • 4
    • 0015014867 scopus 로고
    • Dominant juvenile optic atrophy: A study of two families and review of the hereditary disease in childhood
    • Caldwell JBH, Howard RO, Riggs LA. Dominant juvenile optic atrophy: a study of two families and review of the hereditary disease in childhood. Arch Ophthalmol. 1971:85:133-147.
    • (1971) Arch Ophthalmol. , vol.85 , pp. 133-147
    • Jbh, C.1    Howard, R.O.2    Riggs, L.A.3
  • 5
    • 0015308927 scopus 로고
    • Diagnostic criteria in dominantly inherited juvenile optic atrophy: A report of three new families
    • Smith DP. Diagnostic criteria in dominantly inherited juvenile optic atrophy: a report of three new families. Am J Optom Physiol Opt. 1972;49:183-200.
    • (1972) Am J Optom Physiol Opt. , vol.49 , pp. 183-200
    • Smith, D.P.1
  • 6
    • 0018889212 scopus 로고
    • Autosomal dominant optic atrophy: A spectrum of disability
    • Hoyt CS. Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology. 1980:87:245-251.
    • (1980) Ophthalmology. , vol.87 , pp. 245-251
    • Hoyt, C.S.1
  • 7
    • 84907112196 scopus 로고
    • Diagnosis of dominant infantile optic atrophy in early childhood
    • Jaeger W. Diagnosis of dominant infantile optic atrophy in early childhood. Ophthalmic Pediatr Genet. 1988:9:7-11.
    • (1988) Ophthalmic Pediatr Genet. , vol.9 , pp. 7-11
    • Jaeger, W.1
  • 8
    • 0018397542 scopus 로고
    • Dominant optic atrophy: The clinical profile
    • Kline LB, Glaser JS. Dominant optic atrophy: the clinical profile. Arch Ophthalmol. 1979:97:1680-1686.
    • (1979) Arch Ophthalmol. , vol.97 , pp. 1680-1686
    • Kline, L.B.1    Glaser, J.S.2
  • 10
    • 0020691778 scopus 로고
    • Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy
    • Kjer P. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol. 1982:61:300-312.
    • (1982) Acta Ophthalmol. , vol.61 , pp. 300-312
    • Kjer, P.1
  • 11
    • 0018578961 scopus 로고
    • Psychophysical and visual evoked potential findings in hereditary optic atrophy
    • Harding GFA, Crews SJ, Pitts SM. Psychophysical and visual evoked potential findings in hereditary optic atrophy. Trans Ophthalmol Soc U K. 1979:99:96-102.
    • (1979) Trans Ophthalmol Soc U K. , vol.99 , pp. 96-102
    • Gfa, H.1    Crews, S.J.2    Pitts, S.M.3
  • 12
    • 0025959989 scopus 로고
    • Electrophysiology and colour perimetry in dominant infantile optic atrophy
    • Berninger TA, Jaeger W, Krastel H. Electrophysiology and colour perimetry in dominant infantile optic atrophy. Br J Ophthalmol. 1991:75:49-52.
    • (1991) Br J Ophthalmol. , vol.75 , pp. 49-52
    • Berninger, T.A.1    Jaeger, W.2    Krastel, H.3
  • 13
    • 0023102666 scopus 로고
    • Significance of abnormal pattern electroretinography in anterior visual pathway dysfunction
    • Holder GE. Significance of abnormal pattern electroretinography in anterior visual pathway dysfunction. Br J Ophthalmol. 1987;71:166-171.
    • (1987) Br J Ophthalmol. , vol.71 , pp. 166-171
    • Holder, G.E.1
  • 15
    • 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
  • 16
    • 0028839778 scopus 로고
    • No evidence of genetic heterogeneity in dominant optic atrophy
    • Bonneau D, Souied E, Gerber S, et al. No evidence of genetic heterogeneity in dominant optic atrophy. J Med Genet. 1995:32:951 -953.
    • (1995) J Med Genet. , vol.32 , pp. 951-953
    • Bonneau, D.1    Souied, E.2    Gerber, S.3
  • 18
    • 0031012480 scopus 로고    scopus 로고
    • Dominant optic atrophy, Kjer type: Linkage analysis and clinical features in a large British pedigree
    • Johnston RL, Surdon MA, Spalton DJ, Bryant SP, Behnam JT, Seller MJ. Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree. Arch Ophthalmol. 1997:115:100-103.
    • (1997) Arch Ophthalmol. , vol.115 , pp. 100-103
    • Johnston, R.L.1    Ma, S.2    Spalton, D.J.3    Bryant, S.P.4    Behnam, J.T.5    Seller, M.J.6
  • 20
    • 0031060713 scopus 로고    scopus 로고
    • Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q283q29, within a 3-Mb YAC contig
    • Jonasdottir A, Eiberg H, Kjer B, Kjer P, Rosenberg T. Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q283q29, within a 3-Mb YAC contig. Hum Genet. 1997:99:115-120.
    • (1997) Hum Genet. , vol.99 , pp. 115-120
    • Jonasdottir, A.1    Eiberg, H.2    Kjer, B.3    Kjer, P.4    Rosenberg, T.5
  • 21
    • 0031047752 scopus 로고    scopus 로고
    • Genetic refinement of dominant optic atrophy (OPA1 ) locus to within a 2cM interval of chromosome 3q
    • Votruba M, Moore AT, Bhattacharya SS. Genetic refinement of dominant optic atrophy (OPA1 ) locus to within a 2cM interval of chromosome 3q. J Med Genet. 1997;34:117-121.
    • (1997) J Med Genet. , vol.34 , pp. 117-121
    • Votruba, M.1    Moore, A.T.2    Bhattacharya, S.S.3
  • 22
    • 0029924084 scopus 로고    scopus 로고
    • Dominant optic atrophy mapped to chromosome 3q region, II: Clinical and epidemiological aspects
    • Kjer B, Eiberg H, Kjer P, Rosenberg T. Dominant optic atrophy mapped to chromosome 3q region, II: clinical and epidemiological aspects. Ada OphthalmolScand. 1996;74:3-7.
    • (1996) Ada OphthalmolScand. , vol.74 , pp. 3-7
    • Kjer, B.1    Eiberg, H.2    Kjer, P.3    Rosenberg, T.4
  • 23
    • 0029100850 scopus 로고
    • Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 centimorgans in one Cuban family with autosomal dominant optic atrophy type Kjer
    • Lunkes A, Härtung U, Magarino C. Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 centimorgans in one Cuban family with autosomal dominant optic atrophy type Kjer. Am J Hum Genet. 1995;57:968-970.
    • (1995) Am J Hum Genet. , vol.57 , pp. 968-970
    • Lunkes, A.1    Härtung, U.2    Magarino, C.3
  • 27
    • 0019860154 scopus 로고
    • Retinal ganglion cell classes in the old world monkey: Morphology and central projections
    • Leventhal AG, Rodieck RW, Dreher B. Retinal ganglion cell classes in the old world monkey: morphology and central projections. Science. 1981;213:1139-1142.
    • (1981) Science. , vol.213 , pp. 1139-1142
    • Leventhal, A.G.1    Rodieck, R.W.2    Dreher, B.3
  • 28
    • 0023889195 scopus 로고
    • Segregation of form, colour, movement and depth: Anatomy, physiology and perception
    • Livingstone MS, Hubel DH. Segregation of form, colour, movement and depth: anatomy, physiology and perception. Science. 1988;240:740-749.
    • (1988) Science. , vol.240 , pp. 740-749
    • Livingstone, M.S.1    Hubel, D.H.2
  • 31
    • 0029414423 scopus 로고    scopus 로고
    • Guidelines for pattern electroretinography: Recommendations by the International Society for Clinical Electrophysiology of Vision
    • Marmor MF, Holder GE, Porciatti V, Trick G, Zrenner E. Guidelines for pattern electroretinography: recommendations by the International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol. 1996;91:291-298.
    • (1996) Doc Ophthalmol. , vol.91 , pp. 291-298
    • Marmor, M.F.1    Holder, G.E.2    Porciatti, V.3    Trick, G.4    Zrenner, E.5
  • 33
    • 2642652642 scopus 로고
    • No evidence for genetic heterogeneity in autosomal dominant optic atrophy
    • Abstract.
    • Votruba M, Bnattacharya SS, Moore AT. No evidence for genetic heterogeneity in autosomal dominant optic atrophy. Vision Res. 1995;35:S240. Abstract.
    • (1995) Vision Res. , vol.35
    • Votruba, M.1    Bnattacharya, S.S.2    Moore, A.T.3
  • 34
    • 2642603612 scopus 로고    scopus 로고
    • Autosomal dominant optic atrophy (OPA): Linkage of British pedigrees and refinement of the locus
    • Abstract.
    • Votruba M, Bhattacharya SS, Moore AT. Autosomal dominant optic atrophy (OPA): linkage of British pedigrees and refinement of the locus. Invest Ophthalmol Vis Sei. 1996;37:5656. Abstract.
    • (1996) Invest Ophthalmol Vis Sei. , vol.37 , pp. 5656
    • Votruba, M.1    Bhattacharya, S.S.2    Moore, A.T.3
  • 36
    • 0026661673 scopus 로고
    • Optic atrophy reduces the pattern electroretinogram for both fine and coarse stimulus patterns
    • Bach M, Gerling J, Geiger K. Optic atrophy reduces the pattern electroretinogram for both fine and coarse stimulus patterns. Clin Vision Sei. 1992;7:327-334.
    • (1992) Clin Vision Sei. , vol.7 , pp. 327-334
    • Bach, M.1    Gerling, J.2    Geiger, K.3
  • 37
    • 0023189293 scopus 로고
    • The differential effect of optic nerve disease on pattern and focal electroretinograms
    • Vaegan, Billson FA. The differential effect of optic nerve disease on pattern and focal electroretinograms. Doc Ophthalmol. 1987;65:45-56.
    • (1987) Doc Ophthalmol. , vol.65 , pp. 45-56
    • Vaegan Billson, F.A.1
  • 41
    • 0043224991 scopus 로고
    • Dominant hereditary optic atrophy with bitemporal field defects
    • Manchester PT, Calhoun FP. Dominant hereditary optic atrophy with bitemporal field defects. Arch Ophthalmol. 1958;60:479-484.
    • (1958) Arch Ophthalmol. , vol.60 , pp. 479-484
    • Manchester, P.T.1    Calhoun, F.P.2
  • 42
    • 0029790558 scopus 로고    scopus 로고
    • Transcription factor genes and the developing eye: A genetic perspective
    • Freund C, Horsford DJ, Mclness RR. Transcription factor genes and the developing eye: a genetic perspective. Hum Mol Genet. 1996;5:1471-1488.
    • (1996) Hum Mol Genet. , vol.5 , pp. 1471-1488
    • Freund, C.1    Horsford, D.J.2    Mclness, R.R.3
  • 43
    • 0028264966 scopus 로고
    • Genomic cloning and chromosomal localization of HRY, the human homolog to the drosophila gene, hairy
    • Feder JN, Li L, Jan LY, Jan YN. Genomic cloning and chromosomal localization of HRY, the human homolog to the drosophila gene, hairy. Genomics. 1994;20:56-61.
    • (1994) Genomics. , vol.20 , pp. 56-61
    • Feder, J.N.1    Li, L.2    Jan, L.Y.3    Jan, Y.N.4
  • 44
    • 0029977614 scopus 로고    scopus 로고
    • Mammalian hairy and enhancer of Split homolog-1 regulates differentiation of retinal neurons and is essential for eye morphogenesis
    • Tomita K, Ishibashi M, Nakahara K, et al. Mammalian hairy and enhancer of Split homolog-1 regulates differentiation of retinal neurons and is essential for eye morphogenesis. Neuron. 1996;16:723-734.
    • (1996) Neuron. , vol.16 , pp. 723-734
    • Tomita, K.1    Ishibashi, M.2    Nakahara, K.3
  • 45
    • 0029595271 scopus 로고
    • Targeted disruption of mammalian hairy and enhancer of Split homolo-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects
    • Ishibashi M, Ang SL, Shiota K, Nakanishi S, Kageyama R, Guillemont F. Targeted disruption of mammalian hairy and enhancer of Split homolo-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects. Genes Dev. 1995;9:3136-3148.
    • (1995) Genes Dev. , vol.9 , pp. 3136-3148
    • Ishibashi, M.1    Ang, S.L.2    Shiota, K.3    Nakanishi, S.4    Kageyama, R.5    Guillemont, F.6
  • 47
    • 0029025828 scopus 로고
    • The Brn-3 family of POU-domian factors: Primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons
    • Xiang M, Zhou L, Macke J, et al. The Brn-3 family of POU-domian factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons. J Neurosci. 1995;15:4762-4785.
    • (1995) J Neurosci. , vol.15 , pp. 4762-4785
    • Xiang, M.1    Zhou, L.2    Macke, J.3
  • 48
    • 0029863515 scopus 로고    scopus 로고
    • POL domain factor Brn-3b is required for the development of a large set of retinal ganglion cells
    • Gan L, Xiang M, Zhou L, Wagner DS, Klein WH, Nathans J. POL) domain factor Brn-3b is required for the development of a large set of retinal ganglion cells. Proc Natl Acad Sci U S A. 1996:93:3920-3925.
    • (1996) Proc Natl Acad Sci U S A. , vol.93 , pp. 3920-3925
    • Gan, L.1    Xiang, M.2    Zhou, L.3    Wagner, D.S.4    Klein, W.H.5    Nathans, J.6
  • 49
    • 33847483665 scopus 로고
    • The gene for Brn-3b: A POU domain protein in retinal ganglion cells is assigned to the q31.2 region of chromosome 4
    • Abstract.
    • Xiang M, Zhou L, Peng Y, et al. The gene for Brn-3b: a POU domain protein in retinal ganglion cells is assigned to the q31.2 region of chromosome 4. Cytogenet Cell Genet. 1993;93:7. Abstract.
    • (1993) Cytogenet Cell Genet. , vol.93 , pp. 7
    • Xiang, M.1    Zhou, L.2    Peng, Y.3
  • 51
    • 0029347173 scopus 로고
    • Mapping the Bst mutation on mouse chromosome 16: A model for human optic atrophy
    • Rice DS, Williams RW, Ward-Bailey P, et al. Mapping the Bst mutation on mouse chromosome 16: a model for human optic atrophy. Mammalian Genome. 1995; 6:546-548.
    • (1995) Mammalian Genome. , vol.6 , pp. 546-548
    • Rice, D.S.1    Williams, R.W.2    Ward-Bailey, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.