eMedicine Specialties > Ophthalmology > Genetic Disorders

Aniridia in the Newborn: Differential Diagnoses & Workup

Author: Sophie Bakri, MD, Assistant Professor of Ophthalmology, Vitreoretinal Diseases and Surgery, Mayo Clinic of Rochester
Coauthor(s): John W Simon, MD, Chair, Department of Ophthalmology, Professor, Departments of Ophthalmology and Pediatrics, Albany Medical College
Contributor Information and Disclosures

Updated: Jun 17, 2009

Differential Diagnoses

Aniridia
Cataract, Congenital
Ectopia Lentis
Glaucoma, Complications and Management of Glaucoma Filtering
Glaucoma, Juvenile
Nystagmus, Congenital

Workup

Histologic Findings

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

More on Aniridia in the Newborn

Overview: Aniridia in the Newborn
Differential Diagnoses & Workup: Aniridia in the Newborn
Treatment & Medication: Aniridia in the Newborn
Follow-up: Aniridia in the Newborn
Multimedia: Aniridia in the Newborn
References

References

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

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

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

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

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

  6. 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].

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

  8. 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].

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

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

  11. 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].

  12. 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].

  13. 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].

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

  15. 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].

  16. 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].

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

  18. 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].

  19. 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].

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

Further Reading

Keywords

aniridia, congenital aniridia, aniridia in newborn, iris hypoplasia, absence of iris, iris absence, Wilms tumor, Wilm's tumor, nephroblastoma, WAGR complex, Miller syndrome, pediatric glaucoma, panophthalmic disorder

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.

Medical Editor

Gerhard W Cibis, MD, Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas, Kansas City
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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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

CME Editor

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.

 
 
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