139
Views
3
CrossRef citations to date
0
Altmetric
Case Reports

Lack of FOXE3 coding mutation in a case of congenital aphakia

, , , & ORCID Icon
Pages 95-98 | Received 17 Mar 2017, Accepted 11 Jun 2017, Published online: 14 Aug 2017

References

  • Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet. 2006;79:358–64. doi:10.1086/505654.
  • Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, et al. Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis. 2010;16:1162–68.
  • Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A. 2010;152A:582–90. doi:10.1002/ajmg.a.33257.
  • Beebe DC. The lens. In: Levin LA, Nilsson SFE, Ver Hoeve J, Wu SM, editors. Adlers’s physiology of the eye. Edinburgh, UK: Saunders; 2011. p. 131–63.
  • Gould DB, Smith RS, John SW. Anterior segment development relevant to glaucoma. Int J Dev Biol. 2004;48:1015–29. doi:10.1387/ijdb.041865dg.
  • Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. Mol Vis. 2010;16:549–55.
  • Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet. 2003;4:876–88. doi:10.1038/nrg1202.
  • Goldberg MF. Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). LIV Edward Jackson Memorial Lecture. Am J Ophthalmol. 1997;124:587–626. doi:10.1016/S0002-9394(14)70899-2.
  • Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003;72:1565–70. doi:10.1086/375555.
  • Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, et al. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet. 2005;76:1008–22. doi:10.1086/430721.
  • Saint-Geniez M, D’Amore PA. Development and pathology of the hyaloid, choroidal and retinal vasculature. Int J Dev Biol. 2004;48:1045–58. doi:10.1387/ijdb.041895ms.

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.