1,321
Views
54
CrossRef citations to date
0
Altmetric
Research Article

A Review of the Clinical and Genetic Aspects of Aniridia

&
Pages 306-312 | Received 14 Jun 2013, Accepted 11 Jul 2013, Published online: 18 Oct 2013

References

  • Nelson LB, Spaeth GL, Nowinski TS, et al. Aniridia: A review. Surv Ophthalmol 1984;28(6):621–642
  • Eden U, Iggman D, Riise R, Tornqvist K. Epidemiology of aniridia in Sweden and Norway. Acta Ophthalmol 2008;86(7):727–729
  • Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. Am J Med Genet 1987;24(10):584–588
  • Eden U, Riise R, Tornqvist K. Corneal involvement in congenital aniridia. Cornea 2010;29(10):1096–1102
  • Netland PA, Scott ML, Boyle JWt, Lauderdale JD. Ocular and systemic findings in a survey of aniridia subjects. Journal of AAPOS: The Official Publication of the American Association for Pediatric Ophthalmology and Strabismus/American Association for Pediatric Ophthalmology and Strabismus 2011;15(6):562–566
  • Hingorani M, Williamson KA, Moore AT, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci 2009;50(6):2581–2590
  • Mayer KL, Nordlund ML, Schwartz GS, Holland EJ. Keratopathy in congenital aniridia. Ocul Surf 2003;1(2):74–79
  • Skeens HM, Brooks BP, Holland EJ. Congenital aniridia variant: Minimally abnormal irides with severe limbal stem cell deficiency. Ophthalmology 2011;118(7):1260–1264
  • 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
  • Pearce WG, Mielke BW, Hassard DT, et al. Autosomal dominant keratitis: a possible aniridia variant. Canadian Journal of Ophthalmology/Journal Canadien d'Ophtalmologie 1995;30(3):131–137
  • 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
  • Boughamoura L, Yacoub M, Abroug M, et al. [Gillespie syndrome: 2 familial cases]. Arch Pediatr 2006;13(10):1323–1325
  • Nevin NC, Lim JH. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation: Gillespie syndrome. Am J Med Genet 1990;35(4):468–469
  • 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
  • Kokotas H, Petersen MB. Clinical and molecular aspects of aniridia. Clin Genet 2010;77(5):409–420
  • 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
  • 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
  • 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
  • Churchill A, Booth A. Genetics of aniridia and anterior segment dysgenesis. Br J Ophthalmol 1996;80(7):669–673
  • 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
  • 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
  • Wawrocka A, Budny B, Debicki S, et al. PAX6 3' deletion in a family with aniridia. Ophthalmic Genet 2012;33(1):44–48
  • Brown A, McKie M, van Heyningen V, Prosser J. The Human PAX6 Mutation Database. Nucleic Acids Res 1998;26(1):259–264
  • 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
  • Tzoulaki I, White IM, Hanson IM. PAX6 mutations: Genotype-phenotype correlations. BMC Genet 2005;6:27
  • 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
  • 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
  • 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
  • Kloss BA, Reis LM, Bremond-Gignac D, et al. Analysis of FOXD3 sequence variation in human ocular disease. Molecular Vision 2012;18:1740–1749
  • Glaser T, Ton CC, Mueller R, et al. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). Genomics 1994;19(1):145–148
  • 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
  • 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
  • Gomes JA, Eagle RC Jr, Gomes AK, et al. Recurrent keratopathy after penetrating keratoplasty for aniridia. Cornea 1996;15(5):457–462
  • Kremer I, Rajpal RK, Rapuano CJ, et al. Results of penetrating keratoplasty in aniridia. Am J Ophthalmol 1993;115(3):317–320
  • 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
  • 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
  • Rixen JJ, Cohen AW, Kitzmann AS, et al. Treatment of aniridia With Boston type I keratoprosthesis. Cornea 2013;32(7):947–950

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.