메뉴 건너뛰기




Volumn 103, Issue 1, 1999, Pages 3-11

Sorsby's fundus dystrophy: A literature review

Author keywords

Autosomal dominant disease; Clinical features; Genetic epidemiology; Sorsby's fundus dystrophy; TIMP 3

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; EYE FUNDUS; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; MOLECULAR GENETICS; ONSET AGE; RETINA MACULA DEGENERATION; REVIEW; UNITED KINGDOM;

EID: 0032960536     PISSN: 00290203     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (30)
  • 1
    • 0001790180 scopus 로고
    • A fundus dystrophy with unusual features Late onset and dominant inheritance of a central retinal lesion showing oedema, haemorrhage and exudates developing into generalized choroidal atrophy with massive pigment proliferation
    • Sorsby A, Masson MEJ, Gardener N: A fundus dystrophy with unusual features Late onset and dominant inheritance of a central retinal lesion showing oedema, haemorrhage and exudates developing into generalized choroidal atrophy with massive pigment proliferation. Br J Ophthalmol 33:67-97, 1949.
    • (1949) Br J Ophthalmol , vol.33 , pp. 67-97
    • Sorsby, A.1    Masson, M.E.J.2    Gardener, N.3
  • 2
    • 0019779621 scopus 로고
    • Sorsby's pseudoinflammatory macular dystrophy
    • Hoskin A, Sehmi K, Bird AC: Sorsby's pseudoinflammatory macular dystrophy. Br J Ophthalmol 65:859-865, 1981.
    • (1981) Br J Ophthalmol , vol.65 , pp. 859-865
    • Hoskin, A.1    Sehmi, K.2    Bird, A.C.3
  • 3
    • 0023857467 scopus 로고
    • Sorsby's pseudoinflammatory macular dystrophy-Sorsby's fundus dystrophy
    • Capon MRC, Polkinghorne PJ, Fitzke FW, Bird AC: Sorsby's pseudoinflammatory macular dystrophy-Sorsby's fundus dystrophy. Eye 2:114-122, 1988.
    • (1988) Eye , vol.2 , pp. 114-122
    • Capon, M.R.C.1    Polkinghorne, P.J.2    Fitzke, F.W.3    Bird, A.C.4
  • 5
    • 0029881620 scopus 로고    scopus 로고
    • Sorsby's fundus dystrophy in the British isles: Demonstration of a striking founder effect by microsatellite - Generated haplotypes
    • Wijesuriya S, Evans K, Jay MR, Davison C, Weber BHF, Bird AC, et al: Sorsby's fundus dystrophy in the British isles: Demonstration of a striking founder effect by microsatellite - generated haplotypes. Genome Res 6:92-101, 1996.
    • (1996) Genome Res , vol.6 , pp. 92-101
    • Wijesuriya, S.1    Evans, K.2    Jay, M.R.3    Davison, C.4    Weber, B.H.F.5    Bird, A.C.6
  • 6
    • 0020469843 scopus 로고
    • Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance
    • Forsius HR, Eriksson AW, Suvanto EA, Alanko HI: Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. Am J Ophthalmol 94:634-649, 1982.
    • (1982) Am J Ophthalmol , vol.94 , pp. 634-649
    • Forsius, H.R.1    Eriksson, A.W.2    Suvanto, E.A.3    Alanko, H.I.4
  • 7
    • 0030028627 scopus 로고    scopus 로고
    • A second independent Tyr 168 Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP 3) in Sorsby's fundus dystrophy
    • Felbor U, Stöhr H, Amann T, Schönherr U, Apfelstedt-Sylla E, Weber BHF: A second independent Tyr 168 Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP 3) in Sorsby's fundus dystrophy. J Med Genet 33:233-236, 1996.
    • (1996) J Med Genet , vol.33 , pp. 233-236
    • Felbor, U.1    Stöhr, H.2    Amann, T.3    Schönherr, U.4    Apfelstedt-Sylla, E.5    Weber, B.H.F.6
  • 8
    • 0028879866 scopus 로고
    • A novel Ser 156 Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP 3) in Sorsby's fundus dystrophy with unusual clinical features
    • Felbor U, Stöhr H, Amann T, Schonherr U, Weber BHF: A novel Ser 156 Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP 3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 4:2415-2416, 1995.
    • (1995) Hum Mol Genet , vol.4 , pp. 2415-2416
    • Felbor, U.1    Stöhr, H.2    Amann, T.3    Schonherr, U.4    Weber, B.H.F.5
  • 11
    • 0029563246 scopus 로고
    • Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases - 3 gene on chromosome 22
    • Peters AL, Greenberg J: Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases - 3 gene on chromosome 22. Retina 15:480-485, 1995.
    • (1995) Retina , vol.15 , pp. 480-485
    • Peters, A.L.1    Greenberg, J.2
  • 12
    • 0015081142 scopus 로고
    • Sorsby's familial pseudoinflammatory macular dystrophy
    • Fraser HB, Wallace DC: Sorsby's familial pseudoinflammatory macular dystrophy. Am J Ophthalmol 71:1216-1220, 1971.
    • (1971) Am J Ophthalmol , vol.71 , pp. 1216-1220
    • Fraser, H.B.1    Wallace, D.C.2
  • 14
    • 0029947143 scopus 로고    scopus 로고
    • Sorsby fundus dystrophy. A family with the Ser 181 Cys mutation of the tissue inhibitor of metalloproteinases 3
    • Carrero-Valenzueda RD, Klein ML, Weleber RG, Murphey WH, Litt M Sorsby fundus dystrophy. A family with the Ser 181 Cys mutation of the tissue inhibitor of metalloproteinases 3. Arch Ophthalmol 114:737-738, 1996.
    • (1996) Arch Ophthalmol , vol.114 , pp. 737-738
    • Carrero-Valenzueda, R.D.1    Klein, M.L.2    Weleber, R.G.3    Murphey, W.H.4    Litt, M.5
  • 15
  • 16
    • 0031038238 scopus 로고    scopus 로고
    • Autosomal recessive Sorsby fundus dystrophy revisited: Molecular evidence for dominant inheritance
    • Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BHF: Autosomal recessive Sorsby fundus dystrophy revisited: Molecular evidence for dominant inheritance. Am J Hum Genet 60: 57-62, 1997.
    • (1997) Am J Hum Genet , vol.60 , pp. 57-62
    • Felbor, U.1    Suvanto, E.A.2    Forsius, H.R.3    Eriksson, A.W.4    Weber, B.H.F.5
  • 17
    • 0017063416 scopus 로고
    • Probable common origin of a hereditary fundus dystrophy (Sorsby's pseudoinflammatory macular dystrophy) in an English and Australian family
    • Kalmus H, Seedburgh D: Probable common origin of a hereditary fundus dystrophy (Sorsby's pseudoinflammatory macular dystrophy) in an English and Australian family. J Med Genet 13:271-276, 1976.
    • (1976) J Med Genet , vol.13 , pp. 271-276
    • Kalmus, H.1    Seedburgh, D.2
  • 18
    • 0031468856 scopus 로고    scopus 로고
    • Sorsby fundus dystrophy. Reevaluation of variable expressivity in patients carrying a TIMP 3 founder mutation
    • Felbor U, Benkwitz C, Klein ML, Greenberg J, Gregory CY, Weber BHF: Sorsby fundus dystrophy. Reevaluation of variable expressivity in patients carrying a TIMP 3 founder mutation. Arch Ophthalmol 115:1569-1571, 1997.
    • (1997) Arch Ophthalmol , vol.115 , pp. 1569-1571
    • Felbor, U.1    Benkwitz, C.2    Klein, M.L.3    Greenberg, J.4    Gregory, C.Y.5    Weber, B.H.F.6
  • 19
    • 0031668129 scopus 로고    scopus 로고
    • A novel splice site mutation in the tissue inhibitor of metalloproteinases-3 in Sorsby's fundus dystrophy with unusual clinical features
    • (in press)
    • Tabata Y, Isashiki Y, Kamimura K, Nakao K, Ohba N: A novel splice site mutation in the tissue inhibitor of metalloproteinases-3 in Sorsby's fundus dystrophy with unusual clinical features. Hum Genet (in press).
    • Hum Genet
    • Tabata, Y.1    Isashiki, Y.2    Kamimura, K.3    Nakao, K.4    Ohba, N.5
  • 20
    • 6544228952 scopus 로고    scopus 로고
    • Japanese source
  • 21
    • 0028125576 scopus 로고
    • Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP 3) and mapping of the TIMP 3 gene to chromosome 22
    • Apte SS, Mattei MG, Olsen BR: Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP 3) and mapping of the TIMP 3 gene to chromosome 22. Genomics 19:86-90, 1994.
    • (1994) Genomics , vol.19 , pp. 86-90
    • Apte, S.S.1    Mattei, M.G.2    Olsen, B.R.3
  • 22
    • 0029556810 scopus 로고
    • Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP 3)
    • Stöhr H, Roomp K, Felbor U, Weber BHF: Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP 3). Genome Res 5: 483-487, 1995.
    • (1995) Genome Res , vol.5 , pp. 483-487
    • Stöhr, H.1    Roomp, K.2    Felbor, U.3    Weber, B.H.F.4
  • 23
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP 3) in patients with Sorsby's fundus dystrophy
    • Weber BHF, Vogt G, Pruett RC, Stöhr H, Felbor U: Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP 3) in patients with Sorsby's fundus dystrophy. Nature Genet 8:352-356, 1994.
    • (1994) Nature Genet , vol.8 , pp. 352-356
    • Weber, B.H.F.1    Vogt, G.2    Pruett, R.C.3    Stöhr, H.4    Felbor, U.5
  • 24
    • 0000485529 scopus 로고
    • Fundus dystrophy with unusual features. A histologic study
    • Ashton N, Sorsby A: Fundus dystrophy with unusual features. A histologic study. Br J Ophthalmol 35:751-764, 1951.
    • (1951) Br J Ophthalmol , vol.35 , pp. 751-764
    • Ashton, N.1    Sorsby, A.2
  • 27
    • 0031013169 scopus 로고    scopus 로고
    • Tissue inhibitor of metalloproteinases - 3 is a component of Bruch's membrane of the eye
    • Fariss RN, Apte SS, Olsen BR, Iwata K, Milam AH: Tissue inhibitor of metalloproteinases - 3 is a component of Bruch's membrane of the eye. Am J Pathol 150:323-328, 1997.
    • (1997) Am J Pathol , vol.150 , pp. 323-328
    • Fariss, R.N.1    Apte, S.S.2    Olsen, B.R.3    Iwata, K.4    Milam, A.H.5
  • 28
    • 0025787954 scopus 로고
    • Biochemical mechanisms of constitutive and regulated pre-mRNA splicing
    • Green MR: Biochemical mechanisms of constitutive and regulated pre-mRNA splicing. Ann Rev Cell Biol 7:559-569, 1991.
    • (1991) Ann Rev Cell Biol , vol.7 , pp. 559-569
    • Green, M.R.1
  • 29
    • 0027517303 scopus 로고
    • Splice site mutation in the human protein C gene associated with venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
    • Lind B, van Solinge WW, Schwartz M, Thorsen S: Splice site mutation in the human protein C gene associated with venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis. Blood 8:2423-2432, 1991.
    • (1991) Blood , vol.8 , pp. 2423-2432
    • Lind, B.1    Van Solinge, W.W.2    Schwartz, M.3    Thorsen, S.4
  • 30
    • 0028943732 scopus 로고
    • Increased expression of retinal TIMP 3 mRNA in simplex retinitis pigmentosa is localized to photoreceptor retaining regions
    • Jomary C, Neal MJ, Jones SE: Increased expression of retinal TIMP 3 mRNA in simplex retinitis pigmentosa is localized to photoreceptor retaining regions. J Neurochem 64:2370-2373, 1995.
    • (1995) J Neurochem , vol.64 , pp. 2370-2373
    • Jomary, C.1    Neal, M.J.2    Jones, S.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.