Aniridia in the Newborn Workup

  • Author: Sophie Bakri, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Feb 15, 2012
 

Histologic Findings

Histopathologic examination of advanced cases of aniridia reveals only stubs of iris tissue that lack dilator and sphincter muscles, both neuroectodermal derivatives.

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Contributor Information and Disclosures
Author

Sophie Bakri, MD  Assistant Professor of Ophthalmology, Vitreoretinal Diseases and Surgery, Mayo Clinic of Rochester

Sophie Bakri, MD is a member of the following medical societies: American Academy of Ophthalmology

Disclosure: Nothing to disclose.

Coauthor(s)

John W Simon, MD  Chair, Department of Ophthalmology, Professor, Departments of Ophthalmology and Pediatrics, Albany Medical College

John W Simon, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, and American Association for Pediatric Ophthalmology and Strabismus

Disclosure: Nothing to disclose.

Specialty Editor Board

Gerhard W Cibis, MD  Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas School of Medicine

Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

J James Rowsey, MD  Former Director of Corneal Services, St Luke's Cataract and Laser Institute

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD  Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

  1. Edén U, Riise R, Tornqvist K. Corneal involvement in congenital aniridia. Cornea. Oct 2010;29(10):1096-102. [Medline].

  2. Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis. Aug 22 2010;16:1705-11. [Medline]. [Full Text].

  3. Nelson LB, Spaeth GL, Nowinski TS, et al. Aniridia. A review. Surv Ophthalmol. May-Jun 1984;28(6):621-42. [Medline].

  4. Brauner SC, Walton DS, Chen TC. Aniridia. Int Ophthalmol Clin. Spring 2008;48(2):79-85. [Medline].

  5. Callahan A. Aniridia with ectopia lentis and secondary glaucoma. Am J Ophthalmol. 1949;32:28.

  6. Chen TC, Walton DS. Goniosurgery for prevention of aniridic glaucoma. Arch Ophthalmol. Sep 1999;117(9):1144-8. [Medline].

  7. Edén U, Iggman D, Riise R, Tornqvist K. Epidemiology of aniridia in Sweden and Norway. Acta Ophthalmol. May 19 2008;[Medline].

  8. Grant WM, Walton DS. Progressive changes in the angle in congenital aniridia, with development of glaucoma. Am J Ophthalmol. Nov 1974;78(5):842-7. [Medline].

  9. Hamming N, Wilensky J. Persistent pupillary membrane associated with aniridia. Am J Ophthalmol. Jul 1978;86(1):118-20. [Medline].

  10. Hittner HM, Riccardi VM, Ferrell RE, et al. Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria. Am J Ophthalmol. Apr 1980;89(4):531-9. [Medline].

  11. Jastaneiah S, Al-Rajhi AA. Association of aniridia and dry eyes. Ophthalmology. Sep 2005;112(9):1535-40. [Medline].

  12. Jesberg DO. Aniridia with retinal lipid deposits. Arch Ophthalmol. Sep 1962;68:331-6. [Medline].

  13. Koroma BM, Yang JM, Sundin OH. The Pax-6 homeobox gene is expressed throughout the corneal and conjunctival epithelia. Invest Ophthalmol Vis Sci. Jan 1997;38(1):108-20. [Medline].

  14. Kremer I, Rajpal RK, Rapuano CJ, et al. Results of penetrating keratoplasty in aniridia. Am J Ophthalmol. Mar 15 1993;115(3):317-20. [Medline].

  15. Layman PR, Anderson DR, Flynn JT. Frequent occurrence of hypoplastic optic disks in patients with aniridia. Am J Ophthalmol. Apr 1974;77(4):513-6. [Medline].

  16. Mackman G, Brightbill FS, Optiz JM. Corneal changes in aniridia. Am J Ophthalmol. Apr 1979;87(4):497-502. [Medline].

  17. Margo CE. Congenital aniridia: a histopathologic study of the anterior segment in children. J Pediatr Ophthalmol Strabismus. Sep-Oct 1983;20(5):192-8. [Medline].

  18. Menezo JL, Martinez-Costa R, Cisneros A, et al. Implantation of iris devices in congenital and traumatic aniridias: surgery solutions and complications. Eur J Ophthalmol. Jul-Aug 2005;15(4):451-7. [Medline].

  19. Nishida K, Kinoshita S, Ohashi Y, et al. Ocular surface abnormalities in aniridia. Am J Ophthalmol. Sep 1995;120(3):368-75. [Medline].

  20. Ramaesh K, Ramaesh T, Dutton GN, et al. Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy. Int J Biochem Cell Biol. Mar 2005;37(3):547-57. [Medline].

  21. Warburg M, Mikkelsen M, Andersen SR, et al. Aniridia and interstitial deletion of the short arm of chromosome 11. Metab Pediatr Ophthalmol. 1980;4(2):97-102. [Medline].

  22. Wiggins RE Jr, Tomey KF. The results of glaucoma surgery in aniridia. Arch Ophthalmol. Apr 1992;110(4):503-5. [Medline].

 
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Aniridia. Note the almost complete absence of the iris.
 
 
 
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