메뉴 건너뛰기




Volumn 28, Issue 5-6, 2013, Pages 306-312

A review of the clinical and genetic aspects of aniridia

Author keywords

Aniridia; Genetics; Keratopathy; Keratoprosthesis; PAX6

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

EID: 84886395115     PISSN: 08820538     EISSN: 17445205     Source Type: Journal    
DOI: 10.3109/08820538.2013.825293     Document Type: Review
Times cited : (63)

References (37)
  • 2
    • 55449136509 scopus 로고    scopus 로고
    • Epidemiology of aniridia in Sweden and Norway
    • Eden U, Iggman D, Riise R, Tornqvist K. Epidemiology of aniridia in Sweden and Norway. Acta Ophthalmol 2008; 86(7):727-729.
    • (2008) Acta Ophthalmol , vol.86 , Issue.7 , pp. 727-729
    • Eden, U.1    Iggman, D.2    Riise, R.3    Tornqvist, K.4
  • 3
    • 0023230020 scopus 로고
    • Prevalence and mode of inheritance of major genetic eye diseases in China
    • Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. Am J Med Genet 1987; 24(10):584-588.
    • (1987) Am J Med Genet , vol.24 , Issue.10 , pp. 584-588
    • Hu, D.N.1
  • 4
    • 77958153679 scopus 로고    scopus 로고
    • Corneal involvement in congenital aniridia
    • Eden U, Riise R, Tornqvist K. Corneal involvement in congenital aniridia. Cornea 2010;29(10):1096-1102.
    • (2010) Cornea , vol.29 , Issue.10 , pp. 1096-1102
    • Eden, U.1    Riise, R.2    Tornqvist, K.3
  • 8
    • 79952932093 scopus 로고    scopus 로고
    • Congenital aniridia variant: Minimally abnormal irides with severe limbal stem cell deficiency
    • Skeens HM, Brooks BP, Holland EJ. Congenital aniridia variant: Minimally abnormal irides with severe limbal stem cell deficiency. Ophthalmology 2011;118(7):1260-1264.
    • (2011) Ophthalmology , vol.118 , Issue.7 , pp. 1260-1264
    • Skeens, H.M.1    Brooks, B.P.2    Holland, E.J.3
  • 9
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, Walter MA. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 1995;57(3):539-548.
    • (1995) Am J Hum Genet , vol.57 , Issue.3 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3    Walter, M.A.4
  • 11
    • 1542648311 scopus 로고    scopus 로고
    • Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: A report from the National Wilms Tumor Study Group
    • Breslow NE, Norris R, Norkool PA, et al. Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: A report from the National Wilms Tumor Study Group. J Clin Oncol: Official Journal of the American Society of Clinical Oncology 2003;21(24):4579-4585.
    • (2003) J Clin Oncol: Official Journal of the American Society of Clinical Oncology , vol.21 , Issue.24 , pp. 4579-4585
    • Breslow, N.E.1    Norris, R.2    Norkool, P.A.3
  • 12
    • 33748959854 scopus 로고    scopus 로고
    • Gillespie syndrome: 2 familial cases
    • Boughamoura L, Yacoub M, Abroug M, et al. [Gillespie syndrome: 2 familial cases]. Arch Pediatr 2006; 13(10):1323-1325.
    • (2006) Arch Pediatr , vol.13 , Issue.10 , pp. 1323-1325
    • Boughamoura, L.1    Yacoub, M.2    Abroug, M.3
  • 13
    • 0025318048 scopus 로고
    • Syndrome of partial aniridia, cerebellar ataxia, and mental retardation: Gillespie syndrome
    • Nevin NC, Lim JH. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation: Gillespie syndrome. Am J Med Genet 1990;35(4):468-469.
    • (1990) Am J Med Genet , vol.35 , Issue.4 , pp. 468-469
    • Nevin, N.C.1    Lim, J.H.2
  • 14
    • 0030927863 scopus 로고    scopus 로고
    • The incidence of PAX6 mutation in patients with simple aniridia: An evaluation of mutation detection in 12 cases
    • Axton R, Hanson I, Danes S, et al. The incidence of PAX6 mutation in patients with simple aniridia: An evaluation of mutation detection in 12 cases. J Med Genet 1997; 34(4):279-286.
    • (1997) J Med Genet , vol.34 , Issue.4 , pp. 279-286
    • Axton, R.1    Hanson, I.2    Danes, S.3
  • 15
    • 77953079036 scopus 로고    scopus 로고
    • Clinical and molecular aspects of aniridia
    • Kokotas H, Petersen MB. Clinical and molecular aspects of aniridia. Clin Genet 2010;77(5):409-420.
    • (2010) Clin Genet , vol.77 , Issue.5 , pp. 409-420
    • Kokotas, H.1    Petersen, M.B.2
  • 16
    • 0026907123 scopus 로고
    • The human PAX6 gene is mutated in two patients with aniridia
    • Jordan T, Hanson I, Zaletayev D, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1992;1(5):328-332.
    • (1992) Nat Genet , vol.1 , Issue.5 , pp. 328-332
    • Jordan, T.1    Hanson, I.2    Zaletayev, D.3
  • 17
    • 0026315044 scopus 로고
    • Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region
    • Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell 1991;67(6):1059-1074.
    • (1991) Cell , vol.67 , Issue.6 , pp. 1059-1074
    • Ton, C.C.1    Hirvonen, H.2    Miwa, H.3
  • 18
    • 0026755544 scopus 로고
    • Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene
    • Ton CC, Miwa H, Saunders GF. Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene. Genomics 1992;13(2):251-256.
    • (1992) Genomics , vol.13 , Issue.2 , pp. 251-256
    • Ton, C.C.1    Miwa, H.2    Saunders, G.F.3
  • 19
    • 0029736446 scopus 로고    scopus 로고
    • Genetics of aniridia and anterior segment dysgenesis
    • Churchill A, Booth A. Genetics of aniridia and anterior segment dysgenesis. Br J Ophthalmol 1996;80(7):669-673.
    • (1996) Br J Ophthalmol , vol.80 , Issue.7 , pp. 669-673
    • Churchill, A.1    Booth, A.2
  • 20
    • 0028944665 scopus 로고
    • Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila
    • Halder G, Callaerts P, Gehring WJ. Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 1995;267(5205):1788-1792.
    • (1995) Science , vol.267 , Issue.5205 , pp. 1788-1792
    • Halder, G.1    Callaerts, P.2    Gehring, W.J.3
  • 21
    • 84862799630 scopus 로고    scopus 로고
    • Comparison between aniridia with and without PAX6 mutations: Clinical and molecular analysis in 14 Korean patients with aniridia
    • Lim HT, Seo EJ, Kim GH, et al. Comparison between aniridia with and without PAX6 mutations: Clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology 2012;119(6):1258-1264.
    • (2012) Ophthalmology , vol.119 , Issue.6 , pp. 1258-1264
    • Lim, H.T.1    Seo, E.J.2    Kim, G.H.3
  • 22
    • 84856088671 scopus 로고    scopus 로고
    • PAX6 3' deletion in a family with aniridia
    • Wawrocka A, Budny B, Debicki S, et al. PAX6 3' deletion in a family with aniridia. Ophthalmic Genet 2012;33(1):44-48.
    • (2012) Ophthalmic Genet , vol.33 , Issue.1 , pp. 44-48
    • Wawrocka, A.1    Budny, B.2    Debicki, S.3
  • 24
    • 33749057696 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
    • Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 2006;14(10):1074-1081.
    • (2006) Eur J Hum Genet , vol.14 , Issue.10 , pp. 1074-1081
    • Khajavi, M.1    Inoue, K.2    Lupski, J.R.3
  • 25
    • 25444528475 scopus 로고    scopus 로고
    • PAX6 mutations: Genotype-phenotype correlations
    • Tzoulaki I, White IM, Hanson IM. PAX6 mutations: Genotype-phenotype correlations. BMC Genet 2005;6:27.
    • (2005) BMC Genet , vol.6 , pp. 27
    • Tzoulaki, I.1    White, I.M.2    Hanson, I.M.3
  • 26
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    • Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet 1994; 6(2):168-173.
    • (1994) Nat Genet , vol.6 , Issue.2 , pp. 168-173
    • Hanson, I.M.1    Fletcher, J.M.2    Jordan, T.3
  • 27
    • 43049147169 scopus 로고    scopus 로고
    • Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
    • Robinson DO, Howarth RJ, Williamson KA, et al. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A 2008;146A(5):558-569.
    • (2008) Am J Med Genet A , vol.146 A , Issue.5 , pp. 558-569
    • Robinson, D.O.1    Howarth, R.J.2    Williamson, K.A.3
  • 28
    • 68349093935 scopus 로고    scopus 로고
    • Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
    • Ito YA, Footz TK, Berry FB, et al. Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci 2009;50(8):3573-3579.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , Issue.8 , pp. 3573-3579
    • Ito, Y.A.1    Footz, T.K.2    Berry, F.B.3
  • 29
    • 84864305831 scopus 로고    scopus 로고
    • Analysis of FOXD3 sequence variation in human ocular disease
    • Kloss BA, Reis LM, Bremond-Gignac D, et al. Analysis of FOXD3 sequence variation in human ocular disease. Molecular Vision 2012;18:1740-1749.
    • (2012) Molecular Vision , vol.18 , pp. 1740-1749
    • Kloss, B.A.1    Reis, L.M.2    Bremond-Gignac, D.3
  • 30
    • 0028140080 scopus 로고
    • Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebel-lar ataxia, and mental retardation)
    • Glaser T, Ton CC, Mueller R, et al. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebel-lar ataxia, and mental retardation). Genomics 1994; 19(1):145-148.
    • (1994) Genomics , vol.19 , Issue.1 , pp. 145-148
    • Glaser, T.1    Ton, C.C.2    Mueller, R.3
  • 31
    • 11144273257 scopus 로고    scopus 로고
    • Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy
    • Ramaesh K, Ramaesh T, Dutton GN, Dhillon B. Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy. Int J Biochem Cell Biol 2005;37(3):547-557.
    • (2005) Int J Biochem Cell Biol , vol.37 , Issue.3 , pp. 547-557
    • Ramaesh, K.1    Ramaesh, T.2    Dutton, G.N.3    Dhillon, B.4
  • 32
    • 84859803538 scopus 로고    scopus 로고
    • Surgical and visual outcomes of the type i Boston Keratoprosthesis for the management of aniridic fibrosis syndrome in congenital aniridia
    • Bakhtiari P, Chan C, Welder JD, et al. Surgical and visual outcomes of the type I Boston Keratoprosthesis for the management of aniridic fibrosis syndrome in congenital aniridia. Am J Ophthalmol 2012;153(5):967-971.
    • (2012) Am J Ophthalmol , vol.153 , Issue.5 , pp. 967-971
    • Bakhtiari, P.1    Chan, C.2    Welder, J.D.3
  • 33
    • 0029741248 scopus 로고    scopus 로고
    • Recurrent keratopathy after penetrating keratoplasty for aniridia
    • Gomes JA, Eagle Jr RC, Gomes AK, et al. Recurrent keratopathy after penetrating keratoplasty for aniridia. Cornea 1996;15(5):457-462.
    • (1996) Cornea , vol.15 , Issue.5 , pp. 457-462
    • Gomes, J.A.1    Eagle Jr., R.C.2    Gomes, A.K.3
  • 34
    • 0027532492 scopus 로고
    • Results of penetrating keratoplasty in aniridia
    • Kremer I, Rajpal RK, Rapuano CJ, et al. Results of penetrating keratoplasty in aniridia. Am J Ophthalmol 1993;115(3):317-320.
    • (1993) Am J Ophthalmol , vol.115 , Issue.3 , pp. 317-320
    • Kremer, I.1    Rajpal, R.K.2    Rapuano, C.J.3
  • 35
    • 0037226810 scopus 로고    scopus 로고
    • Management of aniridic keratopathy with keratolimbal allograft: A limbal stem cell transplantation technique
    • Holland EJ, Djalilian AR, Schwartz GS. Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique. Ophthalmology 2003; 110(1):125-130.
    • (2003) Ophthalmology , vol.110 , Issue.1 , pp. 125-130
    • Holland, E.J.1    Djalilian, A.R.2    Schwartz, G.S.3
  • 36
    • 34447623215 scopus 로고    scopus 로고
    • Outcomes of Boston keratoprosthesis in aniridia: A retrospective multicenter study
    • Akpek EK, Harissi-Dagher M, Petrarca R, et al. Outcomes of Boston keratoprosthesis in aniridia: A retrospective multicenter study. Am J Ophthalmol 2007;144(2):227-231.
    • (2007) Am J Ophthalmol , vol.144 , Issue.2 , pp. 227-231
    • Akpek, E.K.1    Harissi-Dagher, M.2    Petrarca, R.3
  • 37
    • 84879117392 scopus 로고    scopus 로고
    • Treatment of aniridia with Boston type i keratoprosthesis
    • Rixen JJ, Cohen AW, Kitzmann AS, et al. Treatment of aniridia With Boston type I keratoprosthesis. Cornea 2013;32(7):947-950.
    • (2013) Cornea , vol.32 , Issue.7 , pp. 947-950
    • Rixen, J.J.1    Cohen, A.W.2    Kitzmann, A.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.