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Volumn 22, Issue 4, 2007, Pages 219-227

Genetics of hereditary vitreoretinal degenerations

Author keywords

Genetics; Vitreoretinal degenerations

Indexed keywords

COLLAGEN;

EID: 37549046444     PISSN: 08820538     EISSN: 17445205     Source Type: Journal    
DOI: 10.1080/08820530701745132     Document Type: Article
Times cited : (4)

References (39)
  • 1
    • 0344442775 scopus 로고    scopus 로고
    • Snowflake vitreoretinal degeneration: Follow-up of the original family
    • Lee MM, Ritter R, 3rd, Hirose T, et al. Snowflake vitreoretinal degeneration: follow-up of the original family. Ophthalmol 2003; 110:2418-26.
    • (2003) Ophthalmol , vol.110 , pp. 2418-2426
    • Lee, M.M.1    Ritter 3rd, R.2    Hirose, T.3
  • 3
    • 0141793633 scopus 로고    scopus 로고
    • Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls
    • Ali A, Feroze AH, Rizvi ZH et al. Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. Am J Ophthalmol 2003; 136:767-9.
    • (2003) Am J Ophthalmol , vol.136 , pp. 767-769
    • Ali, A.1    Feroze, A.H.2    Rizvi, Z.H.3
  • 4
    • 0038694651 scopus 로고    scopus 로고
    • Isolated foveal retinoschisis as a cause of visual loss in young females
    • Kabanarou SA, Holder GE, Bird AC et al. Isolated foveal retinoschisis as a cause of visual loss in young females. Br J Ophthalmol 2003; 87:801-3.
    • (2003) Br J Ophthalmol , vol.87 , pp. 801-803
    • Kabanarou, S.A.1    Holder, G.E.2    Bird, A.C.3
  • 6
    • 0019969570 scopus 로고
    • Autosomal dominant inheritance of retinoschisis
    • Yassur Y, Nissenkorn I, Ben-Sira I, et al. Autosomal dominant inheritance of retinoschisis. Am J Ophthalmol 1982; 94:338.
    • (1982) Am J Ophthalmol , vol.94 , pp. 338
    • Yassur, Y.1    Nissenkorn, I.2    Ben-Sira, I.3
  • 7
    • 0030771360 scopus 로고    scopus 로고
    • Positional cloning of the gene associated with X-linked juvenile retinoschisis
    • Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997; 17:164-70.
    • (1997) Nat Genet , vol.17 , pp. 164-170
    • Sauer, C.G.1    Gehrig, A.2    Warneke-Wittstock, R.3
  • 8
    • 7144253129 scopus 로고    scopus 로고
    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
    • The Retinoschisis Consortium
    • The Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet 1998; 7:1185-92.
    • (1998) Hum Mol Genet , vol.7 , pp. 1185-1192
  • 9
    • 0041356901 scopus 로고    scopus 로고
    • Clinical features of X-linked juvenile retinoschisis with new mutations of the XLRS1 gene in Italian families
    • Simonelli F, Cennamo G, Ziviello C, et al. Clinical features of X-linked juvenile retinoschisis with new mutations of the XLRS1 gene in Italian families. Br J Ophthalmol 2003; 87:1130-4.
    • (2003) Br J Ophthalmol , vol.87 , pp. 1130-1134
    • Simonelli, F.1    Cennamo, G.2    Ziviello, C.3
  • 10
    • 0033880515 scopus 로고    scopus 로고
    • Phenotypic expression of X-linked retinoschisis in Swedish families with different mutations of the XLRS1 gene
    • Elksandh LC, Ponjavic V, Ayyagari R, et al. Phenotypic expression of X-linked retinoschisis in Swedish families with different mutations of the XLRS1 gene. Arch Ophthalmol 2000; 118:1098-104.
    • (2000) Arch Ophthalmol , vol.118 , pp. 1098-1104
    • Elksandh, L.C.1    Ponjavic, V.2    Ayyagari, R.3
  • 12
    • 0029562389 scopus 로고
    • Wagner vitreoretinal degeneration. Follow-up of the original pedigree
    • Graemiger RA, Niemeyer G, Schneeberger SA, et al. Wagner vitreoretinal degeneration. Follow-up of the original pedigree. Ophthalmol 1995; 102:1830-9.
    • (1995) Ophthalmol , vol.102 , pp. 1830-1839
    • Graemiger, R.A.1    Niemeyer, G.2    Schneeberger, S.A.3
  • 13
    • 0032949542 scopus 로고    scopus 로고
    • Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14
    • Zech JC, Morle L, Vincent P, et al. Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. Graefes Arch Clin Exp Ophthalmol 1999; 237:387-93.
    • (1999) Graefes Arch Clin Exp Ophthalmol , vol.237 , pp. 387-393
    • Zech, J.C.1    Morle, L.2    Vincent, P.3
  • 14
    • 0025137033 scopus 로고
    • Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome
    • Fryer AE, Upadhyaya M, Littler M, et al. Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet 1990; 27:91-3.
    • (1990) J Med Genet , vol.27 , pp. 91-93
    • Fryer, A.E.1    Upadhyaya, M.2    Littler, M.3
  • 15
    • 0033510344 scopus 로고    scopus 로고
    • A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14
    • Black GC, Perveen R, Wiszniewski W, et al. A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmol 1999; 106:2074-81.
    • (1999) Ophthalmol , vol.106 , pp. 2074-2081
    • Black, G.C.1    Perveen, R.2    Wiszniewski, W.3
  • 16
    • 0036141515 scopus 로고    scopus 로고
    • A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration
    • Gupta SK, Leonard BC, Damji KF, et al. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol 2002; 133:203-10.
    • (2002) Am J Ophthalmol , vol.133 , pp. 203-210
    • Gupta, S.K.1    Leonard, B.C.2    Damji, K.F.3
  • 18
    • 0029049088 scopus 로고
    • Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14
    • Brown DM, Graeminger RA, Hergersberg M, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol 1995; 113:671-5.
    • (1995) Arch Ophthalmol , vol.113 , pp. 671-675
    • Brown, D.M.1    Graeminger, R.A.2    Hergersberg, M.3
  • 19
    • 0345620822 scopus 로고    scopus 로고
    • Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3
    • Perveen R, Hart-Holden N, Dixon MJ, et al. Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. Genomics 1999; 57:219-26.
    • (1999) Genomics , vol.57 , pp. 219-226
    • Perveen, R.1    Hart-Holden, N.2    Dixon, M.J.3
  • 20
    • 0028293548 scopus 로고
    • Erosive vitreoretinopathy. A new clinical entity
    • Brown DM, Kimura AE, Weingeist TA, et al. Erosive vitreoretinopathy. A new clinical entity. Ophthalmol 1994; 101:694-704.
    • (1994) Ophthalmol , vol.101 , pp. 694-704
    • Brown, D.M.1    Kimura, A.E.2    Weingeist, T.A.3
  • 21
    • 0032922721 scopus 로고    scopus 로고
    • Clinical and molecular genetics of Stickler syndrome
    • Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999; 36:353-9.
    • (1999) J Med Genet , vol.36 , pp. 353-359
    • Snead, M.P.1    Yates, J.R.2
  • 22
    • 37549034884 scopus 로고    scopus 로고
    • A-2-G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred
    • Williams CJ, Ganguly A, Considine E, et al. A-2-G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 1996; 234:720-1.
    • (1996) Am J Med Genet , vol.234 , pp. 720-721
    • Williams, C.J.1    Ganguly, A.2    Considine, E.3
  • 23
    • 0036844803 scopus 로고    scopus 로고
    • Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stckler syndrome family
    • Donoso LA, Edwards AO, Frost AT, et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stckler syndrome family. Am J Ophthalmol 2002; 134:720-7.
    • (2002) Am J Ophthalmol , vol.134 , pp. 720-727
    • Donoso, L.A.1    Edwards, A.O.2    Frost, A.T.3
  • 24
    • 0028589518 scopus 로고
    • Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL2A1
    • Snead MP, Payne SJ, Barton DE, et al. Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL2A1. Eye 1994; 8:609-14.
    • (1994) Eye , vol.8 , pp. 609-614
    • Snead, M.P.1    Payne, S.J.2    Barton, D.E.3
  • 25
    • 0029833063 scopus 로고    scopus 로고
    • A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
    • Richards AJ, Yates JR, Williams R, et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet 1996; 5:1339-43.
    • (1996) Hum Mol Genet , vol.5 , pp. 1339-1343
    • Richards, A.J.1    Yates, J.R.2    Williams, R.3
  • 26
    • 0028129183 scopus 로고
    • A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
    • Brunner HG, van Beersum SE, Warman ML, et al. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet 1994; 3:1561-4.
    • (1994) Hum Mol Genet , vol.3 , pp. 1561-1564
    • Brunner, H.G.1    van Beersum, S.E.2    Warman, M.L.3
  • 27
    • 0034014844 scopus 로고    scopus 로고
    • COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner sundromes
    • Richards AJ, Martin S, Yates JRW, et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner sundromes. Br J Ophthalmol 2000; 84:364-71.
    • (2000) Br J Ophthalmol , vol.84 , pp. 364-371
    • Richards, A.J.1    Martin, S.2    Yates, J.R.W.3
  • 28
    • 0041861039 scopus 로고    scopus 로고
    • Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene
    • Go SL, Maugeri A, Mulder JJ, et al. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Invest Ophthalmol Vis Sci 2003; 44:4035-43.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 4035-4043
    • Go, S.L.1    Maugeri, A.2    Mulder, J.J.3
  • 29
    • 0031949272 scopus 로고    scopus 로고
    • Marshall syndrome associated with a splicing defect at the COL11A1 locus
    • Griffith AJ, Sprunger LK, Sirko-Osadsa DA, et al. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet 1998; 62:816-23.
    • (1998) Am J Hum Genet , vol.62 , pp. 816-823
    • Griffith, A.J.1    Sprunger, L.K.2    Sirko-Osadsa, D.A.3
  • 30
    • 0033365199 scopus 로고    scopus 로고
    • Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
    • Annunen S, Korkko J, Czarny M, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet 1999; 65:974-83.
    • (1999) Am J Hum Genet , vol.65 , pp. 974-983
    • Annunen, S.1    Korkko, J.2    Czarny, M.3
  • 31
    • 0032998256 scopus 로고    scopus 로고
    • Small deletions in the type II collagen triple helix produce Kniest dysplasia
    • Wilkin DJ, Artz AS, South S, et al. Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet 1999;85:105-12.
    • (1999) Am J Med Genet , vol.85 , pp. 105-112
    • Wilkin, D.J.1    Artz, A.S.2    South, S.3
  • 32
    • 0029977272 scopus 로고    scopus 로고
    • A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3
    • Sertie AL, Quimby M, Moreira ES, et al. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Hum Mol Genet 1996; 5:843-7.
    • (1996) Hum Mol Genet , vol.5 , pp. 843-847
    • Sertie, A.L.1    Quimby, M.2    Moreira, E.S.3
  • 33
    • 0025333641 scopus 로고
    • Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity
    • Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 1990; 110(2):124-34.
    • (1990) Am J Ophthalmol , vol.110 , Issue.2 , pp. 124-134
    • Marmor, M.F.1    Jacobson, S.G.2    Foerster, M.H.3    Kellner, U.4    Weleber, R.G.5
  • 34
    • 0025817471 scopus 로고
    • Relatively enhanced S cone function in the Goldmann-Favre syndrome
    • Jacobson SG, Roman AJ, Roman MI, et al. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol 1991; 111(4):446-53.
    • (1991) Am J Ophthalmol , vol.111 , Issue.4 , pp. 446-453
    • Jacobson, S.G.1    Roman, A.J.2    Roman, M.I.3
  • 35
    • 0033975061 scopus 로고    scopus 로고
    • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
    • Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000; 24(2):127-31.
    • (2000) Nat Genet , vol.24 , Issue.2 , pp. 127-131
    • Haider, N.B.1    Jacobson, S.G.2    Cideciyan, A.V.3
  • 36
    • 0141722455 scopus 로고    scopus 로고
    • Shared mutation in NR2E3 in Enhanced S-Cone Syndrome, Goldman-Favre Syndrome, and many cases of Clumped Pigmentary Retinal Degeneration
    • Sharon D, Sandberg MA, Caruso RC, et al. Shared mutation in NR2E3 in Enhanced S-Cone Syndrome, Goldman-Favre Syndrome, and many cases of Clumped Pigmentary Retinal Degeneration. Arch Ophthalmol. 2003; 121:1316-23.
    • (2003) Arch Ophthalmol , vol.121 , pp. 1316-1323
    • Sharon, D.1    Sandberg, M.A.2    Caruso, R.C.3
  • 37
    • 6344250884 scopus 로고    scopus 로고
    • Enhanced S-Cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X)
    • Nakamura Y, Hayashi T, Kozaki K, et al. Enhanced S-Cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X). Acta Ophthalmol.Scand. 2004; 82:616-22.
    • (2004) Acta Ophthalmol.Scand , vol.82 , pp. 616-622
    • Nakamura, Y.1    Hayashi, T.2    Kozaki, K.3
  • 38
    • 28344449263 scopus 로고    scopus 로고
    • Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of Enhanced S-Cone Syndrome demonstrate compound heterozygosity
    • Hayashi T, Gekka T, Goto-Omoto S, et al. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of Enhanced S-Cone Syndrome demonstrate compound heterozygosity. Ophthalmol 2005; 112:2115-22.
    • (2005) Ophthalmol , vol.112 , pp. 2115-2122
    • Hayashi, T.1    Gekka, T.2    Goto-Omoto, S.3
  • 39
    • 4544264183 scopus 로고    scopus 로고
    • Mutation analysis of NR2E3 and NRL genes in Enhanced S-Cone Syndrome
    • Nov;
    • Wright AF, Reddick AC, Schwartz SB, et al. Mutation analysis of NR2E3 and NRL genes in Enhanced S-Cone Syndrome. Hum Mutat. 2004 Nov; 24(5):439.
    • (2004) Hum Mutat , vol.24 , Issue.5 , pp. 439
    • Wright, A.F.1    Reddick, A.C.2    Schwartz, S.B.3


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