메뉴 건너뛰기




Volumn 17, Issue , 2011, Pages 2333-2342

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BOWMAN MEMBRANE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA EPITHELIUM; FEMALE; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; POLAND; PRIORITY JOURNAL; TGFBI GENE; TRANSFORMING GROWTH FACTOR BETA INDUCED CORNEA DYSTROPHY;

EID: 80053003158     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (43)
  • 2
    • 77955621841 scopus 로고    scopus 로고
    • Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature
    • [PMID: 20664689]
    • Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M, Ma X. Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature. Mol Vis 2010; 16:1186-93. [PMID: 20664689]
    • (2010) Mol Vis , vol.16 , pp. 1186-1193
    • Yang, J.1    Han, X.2    Huang, D.3    Yu, L.4    Zhu, Y.5    Tong, Y.6    Zhu, B.7    Li, C.8    Weng, M.9    Ma, X.10
  • 4
    • 2442650583 scopus 로고    scopus 로고
    • Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family
    • [PMID: 15111592]
    • 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; 45:1382-8. [PMID: 15111592]
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1382-1388
    • Klintworth, G.K.1    Bao, W.2    Afshari, N.A.3
  • 5
    • 34547892588 scopus 로고    scopus 로고
    • R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies
    • [PMID: 17768377]
    • Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Escribano J. R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. Mol Vis 2007; 13:1390-6. [PMID: 17768377]
    • (2007) Mol Vis , vol.13 , pp. 1390-1396
    • Blanco-Marchite, C.1    Sánchez-Sánchez, F.2    López-Sánchez, E.3    Escribano, J.4
  • 6
    • 23844551356 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy
    • [PMID: 16087849]
    • Kannabiran C, Sridhar MS, Chakravarthi SK, Vemuganti GK, Lakshmipathi M. Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy. Arch Ophthalmol 2005; 123:1127-33. [PMID: 16087849]
    • (2005) Arch Ophthalmol , vol.123 , pp. 1127-1133
    • Kannabiran, C.1    Sridhar, M.S.2    Chakravarthi, S.K.3    Vemuganti, G.K.4    Lakshmipathi, M.5
  • 7
    • 34748901178 scopus 로고    scopus 로고
    • Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): Natural history and progression after treatment
    • [PMID: 17893542]
    • Moon JW, Kim SW, Kim TI, Cristol SM, Chung ES, Kim EK. Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment. Cornea 2007; 26:1095-100. [PMID: 17893542]
    • (2007) Cornea , vol.26 , pp. 1095-1100
    • Moon, J.W.1    Kim, S.W.2    Kim, T.I.3    Cristol, S.M.4    Chung, E.S.5    Kim, E.K.6
  • 8
    • 85047679031 scopus 로고    scopus 로고
    • Homozygotic patient with _ig-h3 gene mutation in granular dystrophy
    • [PMID: 9603385]
    • Fujiki K, Hotta Y, Nakayasu K, Kanai A. Homozygotic patient with _ig-h3 gene mutation in granular dystrophy. Cornea 1998; 17:288-92. [PMID: 9603385]
    • (1998) Cornea , vol.17 , pp. 288-292
    • Fujiki, K.1    Hotta, Y.2    Nakayasu, K.3    Kanai, A.4
  • 10
    • 13244266966 scopus 로고    scopus 로고
    • Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation
    • [PMID: 15094731]
    • Diaper CJ, Schorderet DF, Chaubert P, Munier FL. Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation. Eye (Lond) 2005; 19:92-6. [PMID: 15094731]
    • (2005) Eye (Lond) , vol.19 , pp. 92-96
    • Diaper, C.J.1    Schorderet, D.F.2    Chaubert, P.3    Munier, F.L.4
  • 11
    • 0025137527 scopus 로고
    • Granular corneal dystrophy Groenouw type I: A report of a probable homozygous patient
    • [PMID: 2336942]
    • Møller HU, Ridgway AE. Granular corneal dystrophy Groenouw type I: a report of a probable homozygous patient. Acta Ophthalmol (Copenh) 1990; 68:97-101. [PMID: 2336942]
    • (1990) Acta Ophthalmol (Copenh) , vol.68 , pp. 97-101
    • Møller, H.U.1    Ridgway, A.E.2
  • 12
    • 58449096179 scopus 로고    scopus 로고
    • Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
    • [PMID: 19145249]
    • Cao W, Ge H, Cui X, Zhang L, Bai J, Fu S, Liu P. Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. Mol Vis 2009; 15:70-5. [PMID: 19145249]
    • (2009) Mol Vis , vol.15 , pp. 70-75
    • Cao, W.1    Ge, H.2    Cui, X.3    Zhang, L.4    Bai, J.5    Fu, S.6    Liu, P.7
  • 13
    • 54049142042 scopus 로고    scopus 로고
    • Phenotypic non-penetrance in granular corneal dystrophy type II
    • [PMID: 18458933]
    • Kim JW, Kim HM, Song JS. Phenotypic non-penetrance in granular corneal dystrophy type II. Graefes Arch Clin Exp Ophthalmol 2008; 246:1629-31. [PMID: 18458933]
    • (2008) Graefes Arch Clin Exp Ophthalmol , vol.246 , pp. 1629-1631
    • Kim, J.W.1    Kim, H.M.2    Song, J.S.3
  • 16
    • 47249104212 scopus 로고    scopus 로고
    • An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families
    • [PMID: 18615206]
    • Liu Z, Wang YQ, Gong QH, Xie LX. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. Mol Vis 2008; 14:1234-9. [PMID: 18615206]
    • (2008) Mol Vis , vol.14 , pp. 1234-1239
    • Liu, Z.1    Wang, Y.Q.2    Gong, Q.H.3    Xie, L.X.4
  • 17
    • 77952955410 scopus 로고    scopus 로고
    • Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy
    • [PMID: 20458218]
    • Edelstein SL, Huang AJW, Harocopos JD. Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. Cornea 2010; 29:698-700. [PMID: 20458218]
    • (2010) Cornea , vol.29 , pp. 698-700
    • Edelstein, S.L.1    Huang, A.J.W.2    Harocopos, J.D.3
  • 18
    • 78149280100 scopus 로고    scopus 로고
    • Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp
    • [PMID: 20697279]
    • Patel DA, Chang SH, Harocopos GJ, Vora SC, Thang DH, Huang AJ. Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp. Cornea 2010; 29:1215-22. [PMID: 20697279]
    • (2010) Cornea , vol.29 , pp. 1215-1222
    • Patel, D.A.1    Chang, S.H.2    Harocopos, G.J.3    Vora, S.C.4    Thang, D.H.5    Huang, A.J.6
  • 19
    • 65649088587 scopus 로고    scopus 로고
    • Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy
    • [PMID: 19433713]
    • Chang L, Zhiqun W, Shijing D, Chen Z, Qingfeng L, Li L, Xuguang S. Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. Arch Ophthalmol 2009; 127:641-4. [PMID: 19433713]
    • (2009) Arch Ophthalmol , vol.127 , pp. 641-644
    • Chang, L.1    Zhiqun, W.2    Shijing, D.3    Chen, Z.4    Qingfeng, L.5    Li, L.6    Xuguang, S.7
  • 20
    • 77952311431 scopus 로고    scopus 로고
    • TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy
    • [PMID: 20360992]
    • Ma K, Liu G, Yang Y, Yu M, Sui R, Yu W, Chen X, Deng Y, Yan N, Cao G, Liu X. TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy. Mol Vis 2010; 16:556-61. [PMID: 20360992]
    • (2010) Mol Vis , vol.16 , pp. 556-561
    • Ma, K.1    Liu, G.2    Yang, Y.3    Yu, M.4    Sui, R.5    Yu, W.6    Chen, X.7    Deng, Y.8    Yan, N.9    Cao, G.10    Liu, X.11
  • 21
    • 70350566528 scopus 로고    scopus 로고
    • Confocal microscopy in ophthalmology
    • [PMID: 19674730]
    • Erie JC, McLaren JW, Patel SV. Confocal microscopy in ophthalmology. Am J Ophthalmol 2009; 148:639-46. [PMID: 19674730]
    • (2009) Am J Ophthalmol , vol.148 , pp. 639-646
    • Erie, J.C.1    McLaren, J.W.2    Patel, S.V.3
  • 25
    • 0242301675 scopus 로고    scopus 로고
    • Improved signal-to-noise ratio in spectral-domain compared with time-domain optical coherence tomography
    • [PMID: 14587817]
    • de Boer JF, Cense B, Park BH, Pierce MC, Tearney GJ, Bouma BE. Improved signal-to-noise ratio in spectral-domain compared with time-domain optical coherence tomography. Opt Lett 2003; 28:2067-9. [PMID: 14587817]
    • (2003) Opt Lett , vol.28 , pp. 2067-2069
    • de Boer, J.F.1    Cense, B.2    Park, B.H.3    Pierce, M.C.4    Tearney, G.J.5    Bouma, B.E.6
  • 26
    • 35748971818 scopus 로고    scopus 로고
    • Repeatability and reproducibility of anterior chamber angle measurement with anterior segment optical coherence tomography
    • [PMID: 17475709]
    • Li H, Leung CK, Cheung CY, Wong L, Pang CP, Weinreb RN, Lam DS. Repeatability and reproducibility of anterior chamber angle measurement with anterior segment optical coherence tomography. Br J Ophthalmol 2007; 91:1490-2. [PMID: 17475709]
    • (2007) Br J Ophthalmol , vol.91 , pp. 1490-1492
    • Li, H.1    Leung, C.K.2    Cheung, C.Y.3    Wong, L.4    Pang, C.P.5    Weinreb, R.N.6    Lam, D.S.7
  • 28
    • 79551706111 scopus 로고    scopus 로고
    • The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype
    • [PMID: 21264234]
    • Zhu Y, Shentu X, Wang W. The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype. Mol Vis 2011; 17:225-30. [PMID: 21264234]
    • (2011) Mol Vis , vol.17 , pp. 225-230
    • Zhu, Y.1    Shentu, X.2    Wang, W.3
  • 30
    • 79952157807 scopus 로고    scopus 로고
    • Molecular genetics of Chinese families with TGFBI corneal dystrophies
    • [PMID: 21311742]
    • Zhang T, Yan N, Yu W, Liu Y, Liu G, Wu X, Lian J, Liu X. Molecular genetics of Chinese families with TGFBI corneal dystrophies. Mol Vis 2011; 17:380-7. [PMID: 21311742]
    • (2011) Mol Vis , vol.17 , pp. 380-387
    • Zhang, T.1    Yan, N.2    Yu, W.3    Liu, Y.4    Liu, G.5    Wu, X.6    Lian, J.7    Liu, X.8
  • 31
    • 77955608544 scopus 로고    scopus 로고
    • TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies
    • [PMID: 20680100]
    • Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Kaur P, Dube D, Vajpayee RB. TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies. Mol Vis 2010; 16:1429-38. [PMID: 20680100]
    • (2010) Mol Vis , vol.16 , pp. 1429-1438
    • Paliwal, P.1    Sharma, A.2    Tandon, R.3    Sharma, N.4    Titiyal, J.S.5    Sen, S.6    Kaur, P.7    Dube, D.8    Vajpayee, R.B.9
  • 32
    • 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
    • [PMID: 10328397]
    • Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA. 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; 106:964-70. [PMID: 10328397]
    • (1999) Ophthalmology , vol.106 , pp. 964-970
    • Stewart, H.1    Black, G.C.2    Donnai, D.3    Bonshek, R.E.4    McCarthy, J.5    Morgan, S.6    Dixon, M.J.7    Ridgway, A.A.8
  • 34
    • 0038356459 scopus 로고    scopus 로고
    • H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
    • [PMID: 12770961]
    • Chau HM, Ha NT, Cung LX, Thanh TK, Fujiki K, Murakami A, Kanai A. H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. Br J Ophthalmol 2003; 87:686-9. [PMID: 12770961]
    • (2003) Br J Ophthalmol , vol.87 , pp. 686-689
    • Chau, H.M.1    Ha, N.T.2    Cung, L.X.3    Thanh, T.K.4    Fujiki, K.5    Murakami, A.6    Kanai, A.7
  • 35
    • 11144289980 scopus 로고    scopus 로고
    • TGFBI gene mutations causing lattice and granular cornealdystrophies in Indian patients
    • [PMID: 15623763]
    • Chakravarthi SV, Kannabiran C, Sridhar MS, Vemuganti GK. TGFBI gene mutations causing lattice and granular cornealdystrophies in Indian patients. Invest Ophthalmol Vis Sci 2005; 46:121-5. [PMID: 15623763]
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 121-125
    • Chakravarthi, S.V.1    Kannabiran, C.2    Sridhar, M.S.3    Vemuganti, G.K.4
  • 37
    • 70350704900 scopus 로고    scopus 로고
    • Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India
    • [PMID: 19822856]
    • Paliwal P, Gupta J, Tandon R, Sharma A, Vajpayee RB. Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. Arch Ophthalmol 2009; 127:1373-6. [PMID: 19822856]
    • (2009) Arch Ophthalmol , vol.127 , pp. 1373-1376
    • Paliwal, P.1    Gupta, J.2    Tandon, R.3    Sharma, A.4    Vajpayee, R.B.5
  • 38
    • 34147184169 scopus 로고    scopus 로고
    • Three-dimensional optical coherence tomography of granular corneal dystrophy
    • [PMID: 17413970]
    • Miura M, Mori H, Watanabe Y, Usui M, Kawana K, Oshika T, Yatagai T, Yasuno Y. Three-dimensional optical coherence tomography of granular corneal dystrophy. Cornea 2007; 26:373-4. [PMID: 17413970]
    • (2007) Cornea , vol.26 , pp. 373-374
    • Miura, M.1    Mori, H.2    Watanabe, Y.3    Usui, M.4    Kawana, K.5    Oshika, T.6    Yatagai, T.7    Yasuno, Y.8
  • 40
    • 1642545585 scopus 로고    scopus 로고
    • Evaluation of granular corneal dystrophy with optical coherent tomography
    • [PMID: 15084860]
    • Meyer CH, Sekundo W. Evaluation of granular corneal dystrophy with optical coherent tomography. Cornea 2004; 23:270-1. [PMID: 15084860]
    • (2004) Cornea , vol.23 , pp. 270-271
    • Meyer, C.H.1    Sekundo, W.2
  • 41
    • 69749086923 scopus 로고    scopus 로고
    • Three-dimensional optical coherence tomography-guided phototherapeutic keratectomy for granular corneal dystrophy
    • [PMID: 19654514]
    • Mori H, Miura M, Iwasaki T, Goto H, Sakurai Y, Watanabe Y, Yasuno Y. Three-dimensional optical coherence tomography-guided phototherapeutic keratectomy for granular corneal dystrophy. Cornea 2009; 28:944-7. [PMID: 19654514]
    • (2009) Cornea , vol.28 , pp. 944-947
    • Mori, H.1    Miura, M.2    Iwasaki, T.3    Goto, H.4    Sakurai, Y.5    Watanabe, Y.6    Yasuno, Y.7
  • 42
    • 77949531441 scopus 로고    scopus 로고
    • Determination of treatment strategies for granular corneal dystrophy type 2 using Fourier-domain optical coherence tomography
    • [PMID: 19726432]
    • Kim TI, Hong JP, Ha BJ, Stulting RD, Kim EK. Determination of treatment strategies for granular corneal dystrophy type 2 using Fourier-domain optical coherence tomography. Br J Ophthalmol 2010; 94:341-5. [PMID: 19726432]
    • (2010) Br J Ophthalmol , vol.94 , pp. 341-345
    • Kim, T.I.1    Hong, J.P.2    Ha, B.J.3    Stulting, R.D.4    Kim, E.K.5
  • 43
    • 77949497798 scopus 로고    scopus 로고
    • Imaging of the lens capsule with an ultrahigh-resolution spectral optical coherence tomography prototype based on a femtosecond laser
    • [PMID: 20215371]
    • Kaluzny BJ, Gora M, Karnowski K, Grulkowski I, Kowalczyk A, Wojtkowski M. Imaging of the lens capsule with an ultrahigh-resolution spectral optical coherence tomography prototype based on a femtosecond laser. Br J Ophthalmol 2010; 94:275-7. [PMID: 20215371]
    • (2010) Br J Ophthalmol , vol.94 , pp. 275-277
    • Kaluzny, B.J.1    Gora, M.2    Karnowski, K.3    Grulkowski, I.4    Kowalczyk, A.5    Wojtkowski, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.