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Volumn 125, Issue 2, 2007, Pages 177-186

Elucidating the molecular genetic basis of the corneal dystrophies: Are we there yet?

Author keywords

[No Author keywords available]

Indexed keywords

BOWMAN MEMBRANE; CENTRAL CRYSTALLINE DYSTROPHY OF SCHYNDER; CONGENITAL CORNEA DYSTROPHY; CONGENITAL HEREDITARY STROMAL DYSTROPHY; CORNEA DYSTROPHY; EPITHELIAL BASEMENT MEMBRANE DYSTROPHY; EPITHELIUM; FLECK CORNEAL DYSTROPHY; HUMAN; LISCH DYSTROPHY; MACULAR CORNEAL DYSTROPHY; MOLECULAR GENETICS; PHYSICIAN; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PRIORITY JOURNAL; REVIEW; X LINKED ENDOTHELIAL CORNEAL DYSTROPHY;

EID: 33846958072     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.2.177     Document Type: Review
Times cited : (54)

References (139)
  • 1
    • 3042662014 scopus 로고    scopus 로고
    • The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies
    • Aldave AJ, Yellore VS, Self CA, Holsclaw D, Small K. The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. Ophthalmology. 2004;111:1407-1409.
    • (2004) Ophthalmology , vol.111 , pp. 1407-1409
    • Aldave, A.J.1    Yellore, V.S.2    Self, C.A.3    Holsclaw, D.4    Small, K.5
  • 2
    • 33846951099 scopus 로고    scopus 로고
    • The clinical utility of genetic analysis in the diagnosis and management of inherited corneal disorders
    • Aldave AJ. The clinical utility of genetic analysis in the diagnosis and management of inherited corneal disorders. Contemp Ophthalmol. 2005;4:1-10.
    • (2005) Contemp Ophthalmol , vol.4 , pp. 1-10
    • Aldave, A.J.1
  • 3
    • 33645865832 scopus 로고    scopus 로고
    • Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene
    • Tanhehco TY, Eifrig DE Jr, Schwab IR, Rapuano CJ, Klintworth GK. Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch Ophthalmol. 2006;124:589-593.
    • (2006) Arch Ophthalmol , vol.124 , pp. 589-593
    • Tanhehco, T.Y.1    Eifrig Jr, D.E.2    Schwab, I.R.3    Rapuano, C.J.4    Klintworth, G.K.5
  • 4
    • 7544248550 scopus 로고    scopus 로고
    • Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene
    • Aldave AJ, Gutmark JG, Yellore VS, et al. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004;138:772-781.
    • (2004) Am J Ophthalmol , vol.138 , pp. 772-781
    • Aldave, A.J.1    Gutmark, J.G.2    Yellore, V.S.3
  • 5
    • 20144385538 scopus 로고    scopus 로고
    • A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene
    • Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. Ophthalmology. 2005;112:1017-1022.
    • (2005) Ophthalmology , vol.112 , pp. 1017-1022
    • Aldave, A.J.1    Rayner, S.A.2    King, J.A.3    Affeldt, J.A.4    Yellore, V.S.5
  • 6
    • 2442650583 scopus 로고    scopus 로고
    • Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family
    • Klintworth GK, Bao W, Afshari NA. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. Invest Ophthalmol Vis Sci. 2004;45:1382-1388.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1382-1388
    • Klintworth, G.K.1    Bao, W.2    Afshari, N.A.3
  • 7
    • 33644552779 scopus 로고    scopus 로고
    • Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene
    • Aldave AJ, Rayner SA, Kim BT, Prechanond A, Yellore VS. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol Vis. 2006;12:142-146.
    • (2006) Mol Vis , vol.12 , pp. 142-146
    • Aldave, A.J.1    Rayner, S.A.2    Kim, B.T.3    Prechanond, A.4    Yellore, V.S.5
  • 8
    • 0034972072 scopus 로고    scopus 로고
    • Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene
    • Hirano K, Hotta Y, Nakamura M, Fujiki K, Kanai A, Yamamoto N. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea. 2001;20:525-529.
    • (2001) Cornea , vol.20 , pp. 525-529
    • Hirano, K.1    Hotta, Y.2    Nakamura, M.3    Fujiki, K.4    Kanai, A.5    Yamamoto, N.6
  • 10
    • 0036739402 scopus 로고    scopus 로고
    • Unilateral lattice dystrophy in an elderly patient
    • Sridhar MS, Pandrowala H, Rao GN. Unilateral lattice dystrophy in an elderly patient. Eye. 2002;16:653-655.
    • (2002) Eye , vol.16 , pp. 653-655
    • Sridhar, M.S.1    Pandrowala, H.2    Rao, G.N.3
  • 11
    • 0033498186 scopus 로고    scopus 로고
    • A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
    • Stewart H, Black GC, Donnai D, et al. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology. 1999;106:964-970.
    • (1999) Ophthalmology , vol.106 , pp. 964-970
    • Stewart, H.1    Black, G.C.2    Donnai, D.3
  • 12
    • 0000028874 scopus 로고
    • Macular corneal dystrophy: An inherited acid mucopolysaccharide storage disease of the corneal fibroblast
    • Klintworth GK, Vogel FS. Macular corneal dystrophy: an inherited acid mucopolysaccharide storage disease of the corneal fibroblast. Am J Pathol. 1964;45:565-586.
    • (1964) Am J Pathol , vol.45 , pp. 565-586
    • Klintworth, G.K.1    Vogel, F.S.2
  • 13
    • 27244444742 scopus 로고    scopus 로고
    • Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells
    • Krafchak CM, Pawar H, Moroi SE, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005;77:694-708.
    • (2005) Am J Hum Genet , vol.77 , pp. 694-708
    • Krafchak, C.M.1    Pawar, H.2    Moroi, S.E.3
  • 14
    • 0015341422 scopus 로고
    • Hereditary crystalline stromal dystrophy of Schnyder, I: Clinical features of a family with hyperlipoproteinaemia
    • Bron AJ, Williams HP, Carruthers ME. Hereditary crystalline stromal dystrophy of Schnyder, I: clinical features of a family with hyperlipoproteinaemia. Br J Ophthalmol. 1972;56:383-399.
    • (1972) Br J Ophthalmol , vol.56 , pp. 383-399
    • Bron, A.J.1    Williams, H.P.2    Carruthers, M.E.3
  • 15
    • 0033775468 scopus 로고    scopus 로고
    • Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?
    • Ridgway AE, Akhtar S, Munier FL, et al. Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin? Invest Ophthalmol Vis Sci. 2000;41:3286-3292.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3286-3292
    • Ridgway, A.E.1    Akhtar, S.2    Munier, F.L.3
  • 16
    • 0033003369 scopus 로고    scopus 로고
    • Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea
    • Akhtar S, Meek KM, Ridgway AE, Bonshek RE, Bron AJ. Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea. Arch Ophthalmol. 1999;117:310-321.
    • (1999) Arch Ophthalmol , vol.117 , pp. 310-321
    • Akhtar, S.1    Meek, K.M.2    Ridgway, A.E.3    Bonshek, R.E.4    Bron, A.J.5
  • 17
    • 0019463175 scopus 로고
    • A light and electron microscopic study of recurrent granular dystrophy of the cornea
    • Johnson BL, Brown SI, Zaidman GW. A light and electron microscopic study of recurrent granular dystrophy of the cornea. Am J Ophthalmol. 1981;92:49-58.
    • (1981) Am J Ophthalmol , vol.92 , pp. 49-58
    • Johnson, B.L.1    Brown, S.I.2    Zaidman, G.W.3
  • 18
    • 0033410222 scopus 로고    scopus 로고
    • A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
    • Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. Am J Ophthalmol. 1999;128:687-691.
    • (1999) Am J Ophthalmol , vol.128 , pp. 687-691
    • Coleman, C.M.1    Hannush, S.2    Covello, S.P.3    Smith, F.J.4    Uitto, J.5    McLean, W.H.6
  • 19
    • 0034073435 scopus 로고    scopus 로고
    • A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy
    • Corden LD, Swensson O, Swensson B, et al. A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Br J Ophthalmol. 2000;84:527-530.
    • (2000) Br J Ophthalmol , vol.84 , pp. 527-530
    • Corden, L.D.1    Swensson, O.2    Swensson, B.3
  • 20
    • 0033958844 scopus 로고    scopus 로고
    • Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
    • Corden LD, Swensson O, Swensson B, et al. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000;70:41-49.
    • (2000) Exp Eye Res , vol.70 , pp. 41-49
    • Corden, L.D.1    Swensson, O.2    Swensson, B.3
  • 21
    • 0036291857 scopus 로고    scopus 로고
    • A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy
    • Irvine AD, Coleman CM, Moore JE, et al. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. Br J Ophthalmol. 2002;86:729-732.
    • (2002) Br J Ophthalmol , vol.86 , pp. 729-732
    • Irvine, A.D.1    Coleman, C.M.2    Moore, J.E.3
  • 22
    • 0031003675 scopus 로고    scopus 로고
    • Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy
    • Irvine AD, Corden LD, Swensson O, et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997;16:184-187.
    • (1997) Nat Genet , vol.16 , pp. 184-187
    • Irvine, A.D.1    Corden, L.D.2    Swensson, O.3
  • 23
    • 17344362372 scopus 로고    scopus 로고
    • Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy
    • Nishida K, Honma Y, Dota A, et al. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997;61:1268-1275.
    • (1997) Am J Hum Genet , vol.61 , pp. 1268-1275
    • Nishida, K.1    Honma, Y.2    Dota, A.3
  • 24
    • 0036875094 scopus 로고    scopus 로고
    • Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy
    • Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A. Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. Jpn J Ophthalmol. 2002;46:673-674.
    • (2002) Jpn J Ophthalmol , vol.46 , pp. 673-674
    • Takahashi, K.1    Murakami, A.2    Okisaka, S.3    Kimura, T.4    Kanai, A.5
  • 25
    • 29044448890 scopus 로고    scopus 로고
    • Meesmann corneal dystrophy (MECD): Report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene
    • Nichini O, Manzi V, Munier FL, Schorderet DF. Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. Ophthalmic Genet. 2005;26:169-173.
    • (2005) Ophthalmic Genet , vol.26 , pp. 169-173
    • Nichini, O.1    Manzi, V.2    Munier, F.L.3    Schorderet, D.F.4
  • 26
    • 28044471222 scopus 로고    scopus 로고
    • Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy
    • Chen YT, Tseng SH, Chao SC. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. Cornea. 2005;24:928-932.
    • (2005) Cornea , vol.24 , pp. 928-932
    • Chen, Y.T.1    Tseng, S.H.2    Chao, S.C.3
  • 27
    • 2642565303 scopus 로고    scopus 로고
    • A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy
    • Yoon MK, Warren JF, Holsclaw DS, Gritz DC, Margolis TP. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. Br J Ophthalmol. 2004;88:752-756.
    • (2004) Br J Ophthalmol , vol.88 , pp. 752-756
    • Yoon, M.K.1    Warren, J.F.2    Holsclaw, D.S.3    Gritz, D.C.4    Margolis, T.P.5
  • 28
    • 0343443045 scopus 로고    scopus 로고
    • Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3
    • Lisch W, Buttner A, Oeffner F, et al. Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. Am J Ophthalmol. 2000;130:461-468.
    • (2000) Am J Ophthalmol , vol.130 , pp. 461-468
    • Lisch, W.1    Buttner, A.2    Oeffner, F.3
  • 29
    • 0026729638 scopus 로고
    • A new, band-shaped and whorled microcystic dystrophy of the corneal epithelium
    • Lisch W, Steuhl KP, Lisch C, et al. A new, band-shaped and whorled microcystic dystrophy of the corneal epithelium. Am J Ophthalmol. 1992;114:35-44.
    • (1992) Am J Ophthalmol , vol.114 , pp. 35-44
    • Lisch, W.1    Steuhl, K.P.2    Lisch, C.3
  • 31
    • 0033767501 scopus 로고    scopus 로고
    • Band-shaped and whorled microcystic dystrophy of the corneal epithelium
    • Charles NC, Young JA, Kumar A, et al. Band-shaped and whorled microcystic dystrophy of the corneal epithelium. Ophthalmology. 2000;107:1761-1764.
    • (2000) Ophthalmology , vol.107 , pp. 1761-1764
    • Charles, N.C.1    Young, J.A.2    Kumar, A.3
  • 32
    • 0028213099 scopus 로고
    • Band-shaped, whorled microcystic corneal dystrophy
    • Robin SB, Epstein RJ, Kornmehl EW. Band-shaped, whorled microcystic corneal dystrophy. Am J Ophthalmol. 1994;117:543-544.
    • (1994) Am J Ophthalmol , vol.117 , pp. 543-544
    • Robin, S.B.1    Epstein, R.J.2    Kornmehl, E.W.3
  • 34
    • 0000987231 scopus 로고
    • Uber eine weitere familiare Hornhaut dystrophie (Reis)
    • Bücklers M. Uber eine weitere familiare Hornhaut dystrophie (Reis). Klin Monatsbl Augenheilkd. 1949;114:386-397.
    • (1949) Klin Monatsbl Augenheilkd , vol.114 , pp. 386-397
    • Bücklers, M.1
  • 35
    • 0014179197 scopus 로고
    • Eine bisher unbekannte, subepitheliale hereditare Hornhaut-dystrophie
    • Thiel HJ, Behnke H. Eine bisher unbekannte, subepitheliale hereditare Hornhaut-dystrophie. Klin Monatsbl Augenheilkd. 1967;150:862-874.
    • (1967) Klin Monatsbl Augenheilkd , vol.150 , pp. 862-874
    • Thiel, H.J.1    Behnke, H.2
  • 36
    • 0029050398 scopus 로고
    • Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): A light and electron microscopic study of eight corneas and a review of the literature
    • Küchle M, Green WR, Volcker HE, Barraquer J. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea. 1995;14:333-354.
    • (1995) Cornea , vol.14 , pp. 333-354
    • Küchle, M.1    Green, W.R.2    Volcker, H.E.3    Barraquer, J.4
  • 37
    • 0032189294 scopus 로고    scopus 로고
    • Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy
    • Okada M, Yamamoto S, Tsujikawa M, et al. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. Am J Ophthalmol. 1998;126:535-542.
    • (1998) Am J Ophthalmol , vol.126 , pp. 535-542
    • Okada, M.1    Yamamoto, S.2    Tsujikawa, M.3
  • 38
    • 11144222881 scopus 로고    scopus 로고
    • Recurrence of chromosome 10 Thiel-Behnke corneal dystrophy (CDB2) after excimer laser phototherapeutic keratectomy or penetrating keratoplasty
    • Sorour HM, Yee SB, Peterson NJ, et al. Recurrence of chromosome 10 Thiel-Behnke corneal dystrophy (CDB2) after excimer laser phototherapeutic keratectomy or penetrating keratoplasty. Cornea. 2005;24:45-50.
    • (2005) Cornea , vol.24 , pp. 45-50
    • Sorour, H.M.1    Yee, S.B.2    Peterson, N.J.3
  • 39
    • 0142138819 scopus 로고    scopus 로고
    • Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25
    • Sullivan LS, Zhao X, Bowne SJ, et al. Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. Curr Eye Res. 2003;27:223-226.
    • (2003) Curr Eye Res , vol.27 , pp. 223-226
    • Sullivan, L.S.1    Zhao, X.2    Bowne, S.J.3
  • 40
    • 0031573381 scopus 로고    scopus 로고
    • Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24
    • Yee RW, Sullivan LS, Lai HT, et al. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. Genomics. 1997;46:152-154.
    • (1997) Genomics , vol.46 , pp. 152-154
    • Yee, R.W.1    Sullivan, L.S.2    Lai, H.T.3
  • 41
    • 0028223723 scopus 로고
    • Three autosomal dominant corneal dystrophies map to chromosome 5q
    • Stone EM, Mathers WD, Rosenwasser GO, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994;6:47-51.
    • (1994) Nat Genet , vol.6 , pp. 47-51
    • Stone, E.M.1    Mathers, W.D.2    Rosenwasser, G.O.3
  • 42
    • 0031020733 scopus 로고    scopus 로고
    • Keratoepithelin mutations in four 5q31-linked corneal dystrophies
    • Munier FL, Korvatska E, Djemai A, et al. Keratoepithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15:247-251.
    • (1997) Nat Genet , vol.15 , pp. 247-251
    • Munier, F.L.1    Korvatska, E.2    Djemai, A.3
  • 43
    • 0038777119 scopus 로고    scopus 로고
    • A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy
    • Ha NT, Cung le X, Chau HM, et al. A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy. Jpn J Ophthalmol. 2003;47:246-248.
    • (2003) Jpn J Ophthalmol , vol.47 , pp. 246-248
    • Ha, N.T.1    Cung le, X.2    Chau, H.M.3
  • 44
    • 0842321896 scopus 로고    scopus 로고
    • Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy
    • Cung le X, Ha NT, Chau HM, et al. Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. Jpn J Ophthalmol. 2004;48:12-16.
    • (2004) Jpn J Ophthalmol , vol.48 , pp. 12-16
    • Cung le, X.1    Ha, N.T.2    Chau, H.M.3
  • 46
    • 0032799821 scopus 로고    scopus 로고
    • Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene: lessons for corneal amyloidogenesis
    • Stewart HS, Ridgway AE, Dixon MJ, Bonshek R, Parveen R, Black G. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene: lessons for corneal amyloidogenesis. Hum Mutat. 1999;14:126-132.
    • (1999) Hum Mutat , vol.14 , pp. 126-132
    • Stewart, H.S.1    Ridgway, A.E.2    Dixon, M.J.3    Bonshek, R.4    Parveen, R.5    Black, G.6
  • 47
    • 0035084939 scopus 로고    scopus 로고
    • Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene
    • Dighiero P, Niel F, Ellies P, et al. Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Ophthalmology. 2001;108:818-823.
    • (2001) Ophthalmology , vol.108 , pp. 818-823
    • Dighiero, P.1    Niel, F.2    Ellies, P.3
  • 48
    • 0034048172 scopus 로고    scopus 로고
    • A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene - R124L and ΔT125-ΔE126
    • Dighiero P, Drunat S, D'Hermies F, Renard G, Delpech M, Valleix S. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene - R124L and ΔT125-ΔE126. Arch Ophthalmol. 2000;118:814-818.
    • (2000) Arch Ophthalmol , vol.118 , pp. 814-818
    • Dighiero, P.1    Drunat, S.2    D'Hermies, F.3    Renard, G.4    Delpech, M.5    Valleix, S.6
  • 50
    • 0033804222 scopus 로고    scopus 로고
    • Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
    • Mashima Y, Yamamoto S, Inoue Y, et al. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am J Ophthalmol. 2000;130:516-517.
    • (2000) Am J Ophthalmol , vol.130 , pp. 516-517
    • Mashima, Y.1    Yamamoto, S.2    Inoue, Y.3
  • 51
    • 0033833217 scopus 로고    scopus 로고
    • Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: The P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy
    • Ha NT, Fujiki K, Hotta Y, Nakayasu K, Kanai A. Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. Am J Ophthalmol. 2000;130:119-120.
    • (2000) Am J Ophthalmol , vol.130 , pp. 119-120
    • Ha, N.T.1    Fujiki, K.2    Hotta, Y.3    Nakayasu, K.4    Kanai, A.5
  • 52
    • 0033106510 scopus 로고    scopus 로고
    • Amyloid and Pro501 Thrmutated βig-h3 gene product colocalize in lattice corneal dystrophy type IIIA
    • Kawasaki S, Nishida K, Quantock AJ, Dota A, Bennett K, Kinoshita S. Amyloid and Pro501 Thrmutated βig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. Am J Ophthalmol. 1999;127:456-458.
    • (1999) Am J Ophthalmol , vol.127 , pp. 456-458
    • Kawasaki, S.1    Nishida, K.2    Quantock, A.J.3    Dota, A.4    Bennett, K.5    Kinoshita, S.6
  • 53
    • 0037111005 scopus 로고    scopus 로고
    • Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
    • Tsujikawa K, Tsujikawa M, Yamamoto S, Fujikado T, Tano Y. Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. Am J Med Genet. 2002;113:20-22.
    • (2002) Am J Med Genet , vol.113 , pp. 20-22
    • Tsujikawa, K.1    Tsujikawa, M.2    Yamamoto, S.3    Fujikado, T.4    Tano, Y.5
  • 54
    • 17744411573 scopus 로고    scopus 로고
    • A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA
    • Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 1998;62:719-722.
    • (1998) Am J Hum Genet , vol.62 , pp. 719-722
    • Yamamoto, S.1    Okada, M.2    Tsujikawa, M.3
  • 55
    • 18744405075 scopus 로고    scopus 로고
    • Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I
    • Tian X, Fujiki K, Wang W, et al. Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. Jpn J Ophthalmol. 2005;49:84-88.
    • (2005) Jpn J Ophthalmol , vol.49 , pp. 84-88
    • Tian, X.1    Fujiki, K.2    Wang, W.3
  • 56
    • 0033768208 scopus 로고    scopus 로고
    • Six different mutations of TGFBI (βig-h3, keratoepithelin) gene found in Japanese corneal dystrophies
    • Fujiki K, Hotta Y, Nakayasu K, et al. Six different mutations of TGFBI (βig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. Cornea. 2000;19:842-845.
    • (2000) Cornea , vol.19 , pp. 842-845
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3
  • 57
    • 0036595666 scopus 로고    scopus 로고
    • Geographical feature of lattice corneal dystrophy patients in Aichi Prefecture: An analysis of the TGFBI gene [in Japanese]
    • Hirano K, Nakamura M, Yamamoto N, Hotta Y. Geographical feature of lattice corneal dystrophy patients in Aichi Prefecture: an analysis of the TGFBI gene [in Japanese]. Nippon Ganka Gakkai Zasshi. 2002;106:352-359.
    • (2002) Nippon Ganka Gakkai Zasshi , vol.106 , pp. 352-359
    • Hirano, K.1    Nakamura, M.2    Yamamoto, N.3    Hotta, Y.4
  • 58
    • 0344242012 scopus 로고    scopus 로고
    • Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I
    • Endo S, Nguyen TH, Fujiki K, et al. Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 1999;128:104-106.
    • (1999) Am J Ophthalmol , vol.128 , pp. 104-106
    • Endo, S.1    Nguyen, T.H.2    Fujiki, K.3
  • 59
    • 0034118666 scopus 로고    scopus 로고
    • Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene
    • Hirano K, Hotta Y, Fujiki K, Kanai A. Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene. Br J Ophthalmol. 2000;84:583-585.
    • (2000) Br J Ophthalmol , vol.84 , pp. 583-585
    • Hirano, K.1    Hotta, Y.2    Fujiki, K.3    Kanai, A.4
  • 60
    • 0031682083 scopus 로고    scopus 로고
    • A new L527R mutation of the βig-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities
    • Fujiki K, Hotta Y, Nakayasu K, et al. A new L527R mutation of the βig-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 1998;103:286-289.
    • (1998) Hum Genet , vol.103 , pp. 286-289
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3
  • 61
    • 32044467120 scopus 로고    scopus 로고
    • Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TG-FBI gene
    • Funayama T, Mashima Y, Kawashima M, Yamada M. Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TG-FBI gene. Jpn J Ophthalmol. 2006;50:62-64.
    • (2006) Jpn J Ophthalmol , vol.50 , pp. 62-64
    • Funayama, T.1    Mashima, Y.2    Kawashima, M.3    Yamada, M.4
  • 62
    • 17244380701 scopus 로고    scopus 로고
    • Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta [in Japanese]
    • Kawashima M, Yamada M, Funayama T, Mashima Y. Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta [in Japanese]. Nippon Ganka Gakkai Zasshi. 2005;109:93-100.
    • (2005) Nippon Ganka Gakkai Zasshi , vol.109 , pp. 93-100
    • Kawashima, M.1    Yamada, M.2    Funayama, T.3    Mashima, Y.4
  • 63
    • 1542610057 scopus 로고    scopus 로고
    • Histopathological study of lattice corneal dystrophy with L527R mutation of transforming growth factor-β induced gene [in Japanese]
    • Nakagawa E, Sakimoto T, Inada N, et al. Histopathological study of lattice corneal dystrophy with L527R mutation of transforming growth factor-β induced gene [in Japanese]. Nippon Ganka Gakkai Zasshi. 2004;108:118-123.
    • (2004) Nippon Ganka Gakkai Zasshi , vol.108 , pp. 118-123
    • Nakagawa, E.1    Sakimoto, T.2    Inada, N.3
  • 64
    • 20344396376 scopus 로고    scopus 로고
    • Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy
    • Yamada N, Chikama TI, Morishige N, et al. Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy. Br J Ophthalmol. 2005;89:771-773.
    • (2005) Br J Ophthalmol , vol.89 , pp. 771-773
    • Yamada, N.1    Chikama, T.I.2    Morishige, N.3
  • 66
    • 0032222723 scopus 로고    scopus 로고
    • A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bucklers corneal dystrophy patients: Mutations in brief No. 180: online
    • Rozzo C, Fossarello M, Galleri G, et al. A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bucklers corneal dystrophy patients: mutations in brief No. 180: online. Hum Mutat. 1998;12:215-216.
    • (1998) Hum Mutat , vol.12 , pp. 215-216
    • Rozzo, C.1    Fossarello, M.2    Galleri, G.3
  • 67
    • 18244404603 scopus 로고    scopus 로고
    • Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin
    • Stix B, Leber M, Bingemer P, et al. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. Invest Ophthalmol Vis Sci. 2005;46:1133-1139.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1133-1139
    • Stix, B.1    Leber, M.2    Bingemer, P.3
  • 68
    • 16644390511 scopus 로고    scopus 로고
    • Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor β-induced (TGFBI, BIGH3) gene [in Japanese]
    • Nakagawa Asahina S, Fujiki K, Enomoto Y, Murakami A, Kanai A. Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor β-induced (TGFBI, BIGH3) gene [in Japanese]. Nippon Ganka Gakkai Zasshi. 2004;108:618-620.
    • (2004) Nippon Ganka Gakkai Zasshi , vol.108 , pp. 618-620
    • Nakagawa Asahina, S.1    Fujiki, K.2    Enomoto, Y.3    Murakami, A.4    Kanai, A.5
  • 69
    • 34248383632 scopus 로고    scopus 로고
    • TGFBI gene mutations in Brazilian patients with corneal dystrophy [published online ahead of print January 27, 2006]
    • doi:10.1038/sj.eye.6702264. Accessed June 13
    • Solari HP, Ventura MP, Perez AB, Sallum JM, Burnier MN, Belfort R. TGFBI gene mutations in Brazilian patients with corneal dystrophy [published online ahead of print January 27, 2006]. Eye. 2006 doi:10.1038/sj.eye.6702264. Accessed June 13, 2006.
    • (2006) Eye , vol.2006
    • Solari, H.P.1    Ventura, M.P.2    Perez, A.B.3    Sallum, J.M.4    Burnier, M.N.5    Belfort, R.6
  • 70
    • 0033983763 scopus 로고    scopus 로고
    • A new mutation (A546T) of the βig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
    • Dighiero P, Drunat S, Ellies P, et al. A new mutation (A546T) of the βig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. Am J Ophthalmol. 2000;129:248-251.
    • (2000) Am J Ophthalmol , vol.129 , pp. 248-251
    • Dighiero, P.1    Drunat, S.2    Ellies, P.3
  • 71
    • 2942577626 scopus 로고    scopus 로고
    • Polymorphic corneal amyloidosis: A disorder due to a novel mutation in the transforming growth factor β-induced (BIGH3) gene
    • Eifrig DE Jr, Afshari NA, Buchanan HWT, Bowling BL, Klintworth GK. Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor β-induced (BIGH3) gene. Ophthalmology. 2004;111:1108-1114.
    • (2004) Ophthalmology , vol.111 , pp. 1108-1114
    • Eifrig Jr, D.E.1    Afshari, N.A.2    Buchanan, H.W.T.3    Bowling, B.L.4    Klintworth, G.K.5
  • 72
    • 0142226907 scopus 로고    scopus 로고
    • A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I
    • Warren JF, Abbott RL, Yoon MK, Crawford JB, Spencer WH, Margolis TP. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 2003;136:872-878.
    • (2003) Am J Ophthalmol , vol.136 , pp. 872-878
    • Warren, J.F.1    Abbott, R.L.2    Yoon, M.K.3    Crawford, J.B.4    Spencer, W.H.5    Margolis, T.P.6
  • 73
    • 0035139506 scopus 로고    scopus 로고
    • Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes
    • Afshari NA, Mullally JE, Afshari MA, et al. Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol. 2001;119:16-22.
    • (2001) Arch Ophthalmol , vol.119 , pp. 16-22
    • Afshari, N.A.1    Mullally, J.E.2    Afshari, M.A.3
  • 74
    • 33745723713 scopus 로고    scopus 로고
    • Discovery of novel homozygous mutation in the TGFBI (BIGH3) gene (V624M) in a patient with unilateral lattice corneal dystrophy
    • E-abstract 1517
    • Afshari N, Bahadur RP, Klintworth GK. Discovery of novel homozygous mutation in the TGFBI (BIGH3) gene (V624M) in a patient with unilateral lattice corneal dystrophy. Invest Ophthalmol Vis Sci. 2004;45:E-abstract 1517.
    • (2004) Invest Ophthalmol Vis Sci , pp. 45
    • Afshari, N.1    Bahadur, R.P.2    Klintworth, G.K.3
  • 75
    • 0038356459 scopus 로고    scopus 로고
    • H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
    • Chau HM, Ha NT, Cung LX, et al. H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. Br J Ophthalmol. 2003;87:686-689.
    • (2003) Br J Ophthalmol , vol.87 , pp. 686-689
    • Chau, H.M.1    Ha, N.T.2    Cung, L.X.3
  • 76
    • 0034016051 scopus 로고    scopus 로고
    • BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies
    • Schmitt-Bernard CF, Guittard C, Arnaud B, et al. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. Invest Ophthalmol Vis Sci. 2000;41:1302-1308.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1302-1308
    • Schmitt-Bernard, C.F.1    Guittard, C.2    Arnaud, B.3
  • 77
    • 0033781982 scopus 로고    scopus 로고
    • Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene
    • Akama TO, Nishida K, Nakayama J, et al. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Nat Genet. 2000;26:237-241.
    • (2000) Nat Genet , vol.26 , pp. 237-241
    • Akama, T.O.1    Nishida, K.2    Nakayama, J.3
  • 78
    • 0035844147 scopus 로고    scopus 로고
    • Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate
    • Akama TO, Nakayama J, Nishida K, et al. Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. J Biol Chem. 2001;276:16271-16278.
    • (2001) J Biol Chem , vol.276 , pp. 16271-16278
    • Akama, T.O.1    Nakayama, J.2    Nishida, K.3
  • 79
    • 1242341218 scopus 로고    scopus 로고
    • Novel mutations in the CHST6 gene causing macular corneal dystrophy
    • Abbruzzese C, Kuhn U, Molina F, Rama P, De Luca M. Novel mutations in the CHST6 gene causing macular corneal dystrophy. Clin Genet. 2004;65:120-125.
    • (2004) Clin Genet , vol.65 , pp. 120-125
    • Abbruzzese, C.1    Kuhn, U.2    Molina, F.3    Rama, P.4    De Luca, M.5
  • 80
    • 12144286495 scopus 로고    scopus 로고
    • Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy
    • Aldave AJ, Yellore VS, Thonar EJ, et al. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Am J Ophthalmol. 2004;137:465-473.
    • (2004) Am J Ophthalmol , vol.137 , pp. 465-473
    • Aldave, A.J.1    Yellore, V.S.2    Thonar, E.J.3
  • 81
    • 19944428274 scopus 로고    scopus 로고
    • Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy
    • El-Ashry MF, Abd El-Aziz MM, Shalaby O, et al. Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol. 2005;139:192-193.
    • (2005) Am J Ophthalmol , vol.139 , pp. 192-193
    • El-Ashry, M.F.1    Abd El-Aziz, M.M.2    Shalaby, O.3
  • 82
    • 0036156860 scopus 로고    scopus 로고
    • Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy
    • El-Ashry MF, El-Aziz MM, Wilkins S, et al. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2002;43:377-382.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 377-382
    • El-Ashry, M.F.1    El-Aziz, M.M.2    Wilkins, S.3
  • 83
    • 0042344730 scopus 로고    scopus 로고
    • Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations
    • Ha NT, Chau HM, Cung le X, et al. Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. Cornea. 2003;22:508-511.
    • (2003) Cornea , vol.22 , pp. 508-511
    • Ha, N.T.1    Chau, H.M.2    Cung le, X.3
  • 84
    • 0042343892 scopus 로고    scopus 로고
    • Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy
    • Ha NT, Chau HM, Cung le X, et al. Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2003;44:3310-3316.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 3310-3316
    • Ha, N.T.1    Chau, H.M.2    Cung le, X.3
  • 85
    • 0041342129 scopus 로고    scopus 로고
    • Mutations in the CHST6 gene in patients with macular corneal dystrophy: Immunohistochemical evidence of heterogeneity
    • Iida-Hasegawa N, Furuhata A, Hayatsu H, et al. Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Invest Ophthalmol Vis Sci. 2003;44:3272-3277.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 3272-3277
    • Iida-Hasegawa, N.1    Furuhata, A.2    Hayatsu, H.3
  • 86
    • 20444450103 scopus 로고    scopus 로고
    • Different mutations in carbohydrate sulfotransferase 6 (CHST6 ) gene cause macular corneal dystrophy types I and II in a single sibship
    • Liu NP, Bao W, Smith CF, Vance JM, Klintworth GK. Different mutations in carbohydrate sulfotransferase 6 (CHST6 ) gene cause macular corneal dystrophy types I and II in a single sibship. Am J Ophthalmol. 2005;139:1118-1120.
    • (2005) Am J Ophthalmol , vol.139 , pp. 1118-1120
    • Liu, N.P.1    Bao, W.2    Smith, C.F.3    Vance, J.M.4    Klintworth, G.K.5
  • 87
    • 17144464076 scopus 로고    scopus 로고
    • Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland
    • Liu NP, Dew-Knight S, Rayner M, et al. Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. Mol Vis. 2000;6:261-264.
    • (2000) Mol Vis , vol.6 , pp. 261-264
    • Liu, N.P.1    Dew-Knight, S.2    Rayner, M.3
  • 88
    • 0038238258 scopus 로고    scopus 로고
    • Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy
    • Niel F, Ellies P, Dighiero P, et al. Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2003;44:2949-2953.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 2949-2953
    • Niel, F.1    Ellies, P.2    Dighiero, P.3
  • 89
  • 90
    • 27544437197 scopus 로고    scopus 로고
    • Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
    • Sultana A, Sridhar MS, Klintworth GK, Balasubramanian D, Kannabiran C. Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. Clin Genet. 2005;68:454-460.
    • (2005) Clin Genet , vol.68 , pp. 454-460
    • Sultana, A.1    Sridhar, M.S.2    Klintworth, G.K.3    Balasubramanian, D.4    Kannabiran, C.5
  • 91
    • 0242695789 scopus 로고    scopus 로고
    • Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India
    • Warren JF, Aldave AJ, Srinivasan M, et al. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. Arch Ophthalmol. 2003;121:1608-1612.
    • (2003) Arch Ophthalmol , vol.121 , pp. 1608-1612
    • Warren, J.F.1    Aldave, A.J.2    Srinivasan, M.3
  • 92
    • 0009432834 scopus 로고
    • Een zeldzame erfelijke Hoornvliesaandoening
    • Wilbaut F, Van Went JM. Een zeldzame erfelijke Hoornvliesaandoening. Ned Tijdschr Geneeskd. 1924;1:2996-2997.
    • (1924) Ned Tijdschr Geneeskd , vol.1 , pp. 2996-2997
    • Wilbaut, F.1    Van Went, J.M.2
  • 93
    • 0004420229 scopus 로고
    • Kristalleinlagerungen in der Hornhautmitte als Erbleiden
    • Schnyder WF. Scheibenförmige Kristalleinlagerungen in der Hornhautmitte als Erbleiden. Klin Monatsbl Augenheilkd. 1939;103:494-502.
    • (1939) Klin Monatsbl Augenheilkd , vol.103 , pp. 494-502
    • Scheibenförmige, S.W.F.1
  • 94
    • 0000684236 scopus 로고
    • Mitteilung über einen neuen Typus von familiärer Hornhauterkrankung
    • Schnyder WF. Mitteilung über einen neuen Typus von familiärer Hornhauterkrankung. Schweiz Med Wochenschr. 1929;59:559-571.
    • (1929) Schweiz Med Wochenschr , vol.59 , pp. 559-571
    • Schnyder, W.F.1
  • 95
    • 0031974436 scopus 로고    scopus 로고
    • Schnyder corneal crystalline dystrophy: Description of a new family with evidence of abnormal lipid storage in skin fibroblasts
    • Battisti C, Dotti MT, Malandrini A, Pezzella F, Bardelli AM, Federico A. Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts. Am J Med Genet. 1998;75:35-39.
    • (1998) Am J Med Genet , vol.75 , pp. 35-39
    • Battisti, C.1    Dotti, M.T.2    Malandrini, A.3    Pezzella, F.4    Bardelli, A.M.5    Federico, A.6
  • 96
    • 0029795076 scopus 로고    scopus 로고
    • The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36
    • Shearman AM, Hudson TJ, Andresen JM, et al. The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36. Hum Mol Genet. 1996;5:1667-1672.
    • (1996) Hum Mol Genet , vol.5 , pp. 1667-1672
    • Shearman, A.M.1    Hudson, T.J.2    Andresen, J.M.3
  • 97
  • 98
    • 20544452085 scopus 로고    scopus 로고
    • Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy
    • Li S, Tiab L, Jiao X, et al. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy. Am J Hum Genet. 2005;77:54-63.
    • (2005) Am J Hum Genet , vol.77 , pp. 54-63
    • Li, S.1    Tiab, L.2    Jiao, X.3
  • 99
    • 0034719131 scopus 로고    scopus 로고
    • PIKfyve lipid kinase is a protein kinase: Downregulation of 5′-phosphoinositide product formation by autophosphorylation
    • Sbrissa D, Ikonomov OC, Shisheva A. PIKfyve lipid kinase is a protein kinase: downregulation of 5′-phosphoinositide product formation by autophosphorylation. Biochemistry. 2000;39:15980-15989.
    • (2000) Biochemistry , vol.39 , pp. 15980-15989
    • Sbrissa, D.1    Ikonomov, O.C.2    Shisheva, A.3
  • 100
    • 0344131430 scopus 로고    scopus 로고
    • In vivo confocal microscopy of fleck dystrophy
    • Frueh BE, Bohnke M. In vivo confocal microscopy of fleck dystrophy. Cornea. 1999;18:658-660.
    • (1999) Cornea , vol.18 , pp. 658-660
    • Frueh, B.E.1    Bohnke, M.2
  • 101
    • 0037363446 scopus 로고    scopus 로고
    • In vivo confocal microscopy of Fleck dystrophy and pre-Descemet's membrane corneal dystrophy
    • Holopainen JM, Moilanen JA, Tervo TM. In vivo confocal microscopy of Fleck dystrophy and pre-Descemet's membrane corneal dystrophy. Cornea. 2003;22:160-163.
    • (2003) Cornea , vol.22 , pp. 160-163
    • Holopainen, J.M.1    Moilanen, J.A.2    Tervo, T.M.3
  • 103
    • 0017694622 scopus 로고
    • A clinical and histopathological study of Francois-Neetens speckled corneal dystrophy
    • Nicholson DH, Green WR, Cross HE, Kenyon KR, Massof D. A clinical and histopathological study of Francois-Neetens speckled corneal dystrophy. Am J Ophthalmol. 1977;83:554-560.
    • (1977) Am J Ophthalmol , vol.83 , pp. 554-560
    • Nicholson, D.H.1    Green, W.R.2    Cross, H.E.3    Kenyon, K.R.4    Massof, D.5
  • 104
    • 0006959084 scopus 로고
    • Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes
    • Turpin R, Tisserand M, Serane J. Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes. Arch Ophthalmol (Paris). 1939;3:109-111.
    • (1939) Arch Ophthalmol (Paris) , vol.3 , pp. 109-111
    • Turpin, R.1    Tisserand, M.2    Serane, J.3
  • 106
    • 0036132923 scopus 로고    scopus 로고
    • Report of a new family with dominant congenital heredity stromal dystrophy of the cornea
    • Van Ginderdeuren R, De Vos R, Casteels I, Foets B. Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. Cornea. 2002;21:118-120.
    • (2002) Cornea , vol.21 , pp. 118-120
    • Van Ginderdeuren, R.1    De Vos, R.2    Casteels, I.3    Foets, B.4
  • 108
    • 0035504694 scopus 로고    scopus 로고
    • Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
    • Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423.
    • (2001) Hum Mol Genet , vol.10 , pp. 2415-2423
    • Biswas, S.1    Munier, F.L.2    Yardley, J.3
  • 109
    • 0025887138 scopus 로고
    • The alpha 2 (VIII) collagen gene: A novel member of the short chain collagen family located on the human chromosome 1
    • Muragaki Y, Jacenko O, Apte S, Mattei MG, Ninomiya Y, Olsen BR. The alpha 2 (VIII) collagen gene: a novel member of the short chain collagen family located on the human chromosome 1. J Biol Chem. 1991;266:7721-7727.
    • (1991) J Biol Chem , vol.266 , pp. 7721-7727
    • Muragaki, Y.1    Jacenko, O.2    Apte, S.3    Mattei, M.G.4    Ninomiya, Y.5    Olsen, B.R.6
  • 110
    • 0023762823 scopus 로고
    • Type VIII collagen has a restricted distribution in specialized extracellular matrices
    • Kapoor R, Sakai LY, Funk S, Roux E, Bornstein P, Sage EH. Type VIII collagen has a restricted distribution in specialized extracellular matrices. J Cell Biol. 1988;107:721-730.
    • (1988) J Cell Biol , vol.107 , pp. 721-730
    • Kapoor, R.1    Sakai, L.Y.2    Funk, S.3    Roux, E.4    Bornstein, P.5    Sage, E.H.6
  • 111
    • 22144445323 scopus 로고    scopus 로고
    • Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy
    • Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1934-1939
    • Gottsch, J.D.1    Sundin, O.H.2    Liu, S.H.3
  • 112
    • 2542462332 scopus 로고    scopus 로고
    • Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy
    • Kobayashi A, Fujiki K, Murakami A, et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol. 2004;48:195-198.
    • (2004) Jpn J Ophthalmol , vol.48 , pp. 195-198
    • Kobayashi, A.1    Fujiki, K.2    Murakami, A.3
  • 113
    • 33749145155 scopus 로고    scopus 로고
    • No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy
    • Aldave AJ, Rayner SA, Salem AK, et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2006;47:3787-3790.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 3787-3790
    • Aldave, A.J.1    Rayner, S.A.2    Salem, A.K.3
  • 114
    • 33644843021 scopus 로고    scopus 로고
    • Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13
    • Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-145.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 140-145
    • Sundin, O.H.1    Jun, A.S.2    Broman, K.W.3
  • 116
    • 0033375864 scopus 로고    scopus 로고
    • Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci
    • Kanis AB, Al-Rajhi AA, Taylor CM, et al. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. Ophthalmic Genet. 1999;20:243-249.
    • (1999) Ophthalmic Genet , vol.20 , pp. 243-249
    • Kanis, A.B.1    Al-Rajhi, A.A.2    Taylor, C.M.3
  • 117
    • 0032877983 scopus 로고    scopus 로고
    • Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping
    • Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. Genomics. 1999;61:1-4.
    • (1999) Genomics , vol.61 , pp. 1-4
    • Hand, C.K.1    Harmon, D.L.2    Kennedy, S.M.3    FitzSimon, J.S.4    Collum, L.M.5    Parfrey, N.A.6
  • 118
    • 0033047604 scopus 로고    scopus 로고
    • Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
    • Callaghan M, Hand CK, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. Br J Ophthalmol. 1999;83:115-119.
    • (1999) Br J Ophthalmol , vol.83 , pp. 115-119
    • Callaghan, M.1    Hand, C.K.2    Kennedy, S.M.3    FitzSimon, J.S.4    Collum, L.M.5    Parfrey, N.A.6
  • 120
    • 33745544253 scopus 로고    scopus 로고
    • Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
    • Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet. 2006;38:755-757.
    • (2006) Nat Genet , vol.38 , pp. 755-757
    • Vithana, E.N.1    Morgan, P.2    Sundaresan, P.3
  • 121
    • 0028920471 scopus 로고
    • Linkage of posterior polymorphous corneal dystrophy to 20q11
    • Heon E, Mathers WD, Alward WL, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 1995;4:485-488.
    • (1995) Hum Mol Genet , vol.4 , pp. 485-488
    • Heon, E.1    Mathers, W.D.2    Alward, W.L.3
  • 122
    • 0036566556 scopus 로고    scopus 로고
    • VSX1: A gene for posterior polymorphous dystrophy and keratoconus
    • Heon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11:1029-1036.
    • (2002) Hum Mol Genet , vol.11 , pp. 1029-1036
    • Heon, E.1    Greenberg, A.2    Kopp, K.K.3
  • 123
    • 0034007794 scopus 로고    scopus 로고
    • Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues
    • Semina EV, Mintz-Hittner HA, Murray JC. Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics. 2000;63:289-293.
    • (2000) Genomics , vol.63 , pp. 289-293
    • Semina, E.V.1    Mintz-Hittner, H.A.2    Murray, J.C.3
  • 124
    • 33644805177 scopus 로고    scopus 로고
    • Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene
    • Gwilliam R, Liskova P, Filipec M, et al. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci. 2005;46:4480-4484.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 4480-4484
    • Gwilliam, R.1    Liskova, P.2    Filipec, M.3
  • 125
    • 14144250396 scopus 로고    scopus 로고
    • Candidate gene screening for posterior polymorphous dystrophy
    • Aldave AJ, Yellore VS, Principe AH, et al. Candidate gene screening for posterior polymorphous dystrophy. Cornea. 2005;24:151-155.
    • (2005) Cornea , vol.24 , pp. 151-155
    • Aldave, A.J.1    Yellore, V.S.2    Principe, A.H.3
  • 126
    • 19944416896 scopus 로고    scopus 로고
    • VSX1 mutational analysis in a series of Italian patients affected by keratoconus: Detection of a novel mutation
    • Bisceglia L, Ciaschetti M, De Bonis P, et al. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci. 2005;46:39-45.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 39-45
    • Bisceglia, L.1    Ciaschetti, M.2    De Bonis, P.3
  • 127
    • 20444478630 scopus 로고    scopus 로고
    • No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy
    • Yellore VS, Rayner SA, Emmert-Buck L, et al. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1599-1603.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1599-1603
    • Yellore, V.S.1    Rayner, S.A.2    Emmert-Buck, L.3
  • 128
    • 0015146577 scopus 로고
    • Electron microscopy of posterior polymorphous degeneration
    • Boruchoff SA, Kuwabara T. Electron microscopy of posterior polymorphous degeneration. Am J Ophthalmol. 1971;72:879-887.
    • (1971) Am J Ophthalmol , vol.72 , pp. 879-887
    • Boruchoff, S.A.1    Kuwabara, T.2
  • 129
    • 0021717425 scopus 로고
    • Morphologic characteristics of posterior polymorphous dystrophy: A study of nine corneas and review of the literature
    • Henriquez AS, Kenyon KR, Dohlman CH, et al. Morphologic characteristics of posterior polymorphous dystrophy: a study of nine corneas and review of the literature. Surv Ophthalmol. 1984;29:139-147.
    • (1984) Surv Ophthalmol , vol.29 , pp. 139-147
    • Henriquez, A.S.1    Kenyon, K.R.2    Dohlman, C.H.3
  • 130
    • 0028113326 scopus 로고
    • E1a induces the expression of epithelial characteristics
    • Frisch SM. E1a induces the expression of epithelial characteristics. J Cell Biol. 1994;127:1085-1096.
    • (1994) J Cell Biol , vol.127 , pp. 1085-1096
    • Frisch, S.M.1
  • 131
    • 0034601442 scopus 로고    scopus 로고
    • Evidence for a function of CtBP in epithelial gene regulation and anoikis
    • Grooteclaes ML, Frisch SM. Evidence for a function of CtBP in epithelial gene regulation and anoikis. Oncogene. 2000;19:3823-3828.
    • (2000) Oncogene , vol.19 , pp. 3823-3828
    • Grooteclaes, M.L.1    Frisch, S.M.2
  • 132
    • 33144458754 scopus 로고    scopus 로고
    • A new, X-linked endothelial corneal dystrophy
    • Schmid E, Lisch W, Philipp W, et al. A new, X-linked endothelial corneal dystrophy. Am J Ophthalmol. 2006;141:478-487.
    • (2006) Am J Ophthalmol , vol.141 , pp. 478-487
    • Schmid, E.1    Lisch, W.2    Philipp, W.3
  • 133
    • 2942537993 scopus 로고    scopus 로고
    • Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions
    • Aldave AJ, Lin DY, Principe AH, Yellore VS, Weissman BA. Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. Am J Ophthalmol. 2004;137:1124-1127.
    • (2004) Am J Ophthalmol , vol.137 , pp. 1124-1127
    • Aldave, A.J.1    Lin, D.Y.2    Principe, A.H.3    Yellore, V.S.4    Weissman, B.A.5
  • 134
    • 11144241602 scopus 로고    scopus 로고
    • Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis
    • Aldave AJ, Principe AH, Lin DY, Yellore VS, Small KW. Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. Cornea. 2005;24:112-115.
    • (2005) Cornea , vol.24 , pp. 112-115
    • Aldave, A.J.1    Principe, A.H.2    Lin, D.Y.3    Yellore, V.S.4    Small, K.W.5
  • 135
    • 0036744260 scopus 로고    scopus 로고
    • Mice deficient in small leucine-rich proteoglycans: Novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases
    • Ameye L, Young MF. Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases. Glycobiology. 2002;12:107R-116R.
    • (2002) Glycobiology , vol.12
    • Ameye, L.1    Young, M.F.2
  • 136
    • 23444448102 scopus 로고    scopus 로고
    • Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye
    • Hopfer U, Fukai N, Hopfer H, et al. Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye. FASEB J. 2005;19:1232-1244.
    • (2005) FASEB J , vol.19 , pp. 1232-1244
    • Hopfer, U.1    Fukai, N.2    Hopfer, H.3
  • 137
    • 1842535050 scopus 로고    scopus 로고
    • Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1
    • Ohtoshi A, Wang SW, Maeda H, et al. Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1. Curr Biol. 2004;14:530-536.
    • (2004) Curr Biol , vol.14 , pp. 530-536
    • Ohtoshi, A.1    Wang, S.W.2    Maeda, H.3
  • 138
    • 0034596225 scopus 로고    scopus 로고
    • Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi ) gene
    • Schorderet DF, Menasche M, Morand S, et al. Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi ) gene. Biochem Biophys Res Commun. 2000;274:267-274.
    • (2000) Biochem Biophys Res Commun , vol.274 , pp. 267-274
    • Schorderet, D.F.1    Menasche, M.2    Morand, S.3
  • 139
    • 0036987851 scopus 로고    scopus 로고
    • The pathogenesis and treatment of corneal disorders [in Japanese]
    • Kanai A. The pathogenesis and treatment of corneal disorders [in Japanese]. Nippon Ganka Gakkai Zasshi. 2002;106:757-777.
    • (2002) Nippon Ganka Gakkai Zasshi , vol.106 , pp. 757-777
    • Kanai, A.1


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