eMedicine Specialties > Ophthalmology > Iris & Ciliary Body

Aniridia: Differential Diagnoses & Workup

Author: Daljit Singh, MBBS, MS, DSc, Professor Emeritis, Department of Ophthalmology, Guru Nanak Dev University, Amritsar, India; Director, Daljit Singh Eye Hospital
Coauthor(s): Arun Verma, MD, Senior Consultant, Department of Ophthalmology, Daljit Singh Eye Hospital, Amritsar, India
Contributor Information and Disclosures

Updated: Jan 17, 2008

Differential Diagnoses

Other Problems to Be Considered

Rieger syndrome with iridocorneal dysgenesis
Congenital coloboma of the iris
Hereditary iris hypoplasia
Traumatic iris injury
Surgical iris coloboma
Bilateral congenital mydriasis
AGR triad - Sporadic (bilateral or unilateral) aniridia, genitourinary abnormalities, and mental retardation

Workup

Laboratory Studies

  • Chromosomal deletion is detected by cytogenetic testing with the use of high-resolution banding.
  • Submicroscopic deletions of the Wilms tumor gene are recognized with a fluorescent in situ hybridization (FISH) technique.
  • High-resolution chromosome studies are obtained in sporadic cases to determine if there is a deletion of band 11p13.
  • Serial renal ultrasound examinations are indicated in patients through age 7 years, especially for those with a deletion of band 11p13 or for those with a negative family history of aniridia and normal chromosomes.

Histologic Findings

Histologically, small portions of the iris are always present; the ciliary body is usually hypoplastic; and the anterior chamber angle may be normal, immature (ie, incompletely developed), or malformed. In eyes enucleated from older patients, extensive peripheral anterior synechiae that cause the iris stump to adhere to the posterior corneal surface have been observed.

More on Aniridia

Overview: Aniridia
Differential Diagnoses & Workup: Aniridia
Treatment & Medication: Aniridia
Follow-up: Aniridia
Multimedia: Aniridia
References
[ CLOSE WINDOW ]

References

  1. Akpek EK, Harissi-Dagher M, Petrarca R, Butrus SI, Pineda R 2nd, Aquavella JV, et al. Outcomes of Boston keratoprosthesis in aniridia: a retrospective multicenter study. Am J Ophthalmol. Aug 2007;144(2):227-231. [Medline].

  2. Dharmaraj N, Reddy A, Kiran V, Mandal A, Panicker S, Chakrabarti S. PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India. Ophthalmic Genet. Sep 2003;24(3):161-5. [Medline].

  3. Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol. May 1977;83(5):718-24. [Medline].

  4. Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson IM, van Heyningen V. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Am J Hum Genet. Dec 1992;51(6):1286-94. [Medline].

  5. François J, Coucke D, Coppieters R. Aniridia-Wilms' tumour syndrome. Ophthalmologica. 1977;174(1):35-9. [Medline].

  6. Friedman AL. Wilms' tumor detection in patients with sporadic aniridia. Successful use of ultrasound. Am J Dis Child. Feb 1986;140(2):173-4. [Medline].

  7. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. Nov 1992;2(3):232-9. [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. Green DM, Breslow NE, Beckwith JB, Norkool P. Screening of children with hemihypertrophy, aniridia, and Beckwith-Wiedemann syndrome in patients with Wilms tumor: a report from the National Wilms Tumor Study. Med Pediatr Oncol. 1993;21(3):188-92. [Medline].

  10. Hittner HM. Aniridia. In: Robert ED, Shields MB, et al, eds. The Glaucomas. St. Louis: Mosby; 1989:869-884.

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

  12. Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. May-Jun 1984;28(6):621-42. [Medline].

  13. Nevin NC, Lim JH. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. Am J Med Genet. Apr 1990;35(4):468-9. [Medline].

  14. Pearce WG. Variability of iris defects in autosomal dominant aniridia. Can J Ophthalmol. Feb 1994;29(1):25-9. [Medline].

  15. Pilling GP. Wilms' tumor in seven children with congenital aniridia. J Pediatr Surg. Feb 1975;10(1):87-96. [Medline].

  16. Riccardi VM, Sujansky E, Smith AC, Francke U. Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics. Apr 1978;61(4):604-10. [Medline].

  17. Roy FH. Ocular Differential Diagnosis. 7th ed. Lippincott Williams & Wilkins; 2002.

  18. Roy FH. Ocular Syndromes and Systemic Disease. 3rd ed. Lippincott Williams & Wilkins; 2002.

  19. Schroeder HW, Orth U, Meyer-König E, Gal A. [Hereditary foveal hypoplasia - clinical differentiation]. Klin Monatsbl Augenheilkd. Aug 2003;220(8):559-62. [Medline].

  20. Vincent MC, Pujo AL, Olivier D, Calvas P. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur J Hum Genet. Feb 2003;11(2):163-9. [Medline].

  21. Walton DS. Aniridic glaucoma: the results of gonio-surgery to prevent and treat this problem. Trans Am Ophthalmol Soc. 1986;84:59-70. [Medline].

  22. Wong VW, Lam PT, Lai TY, Lam DS. Black diaphragm aniridia intraocular lens for aniridia and albinism. Graefes Arch Clin Exp Ophthalmol. May 2005;243(5):501-4. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

absence of iris, partial or complete absence of iris, congenital aniridia, iridemia, iris hypoplasia, panocular disorder, cataract

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Daljit Singh, MBBS, MS, DSc, Professor Emeritis, Department of Ophthalmology, Guru Nanak Dev University, Amritsar, India; Director, Daljit Singh Eye Hospital
Daljit Singh, MBBS, MS, DSc is a member of the following medical societies: All India Ophthalmological Society, American Society of Cataract and Refractive Surgery, Indian Medical Association, International Intraocular Implant Club, and Intraocular Implant and Refractive Society, India
Disclosure: Nothing to disclose.

Coauthor(s)

Arun Verma, MD, Senior Consultant, Department of Ophthalmology, Daljit Singh Eye Hospital, Amritsar, India
Disclosure: Nothing to disclose.

Medical Editor

Richard W Allinson, MD, Associate Professor, Division of Ophthalmology, Texas A&M University Health Science Center, Associate Professor, Department of Surgery, Scott and White Clinic
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
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.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.