eMedicine Specialties > Ophthalmology > Iris & Ciliary Body

Aniridia: Follow-up

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

Follow-up

Further Outpatient Care

  • Lifelong, regular, and careful follow-up care is essential.

Deterrence/Prevention

  • Patients should have proper genetic counseling.
  • Patients should have thorough lifelong follow-up care to determine whether glaucoma is present.

Complications

  • Aniridia can be complicated by the presence or association of other problems, mainly cataract and glaucoma.

Prognosis

  • Prognosis varies from patient to patient.
  • Unmonitored and untreated elevated intraocular pressure may damage vision.
  • Cataract may require surgery.
  • Progressive corneal opacification may need corneal grafting.

Patient Education

  • Thoroughly educating the patient and parents about this condition and the associated ocular anomalies and systemic problems is mandatory.

Miscellaneous

Medicolegal Pitfalls

  • Failure to detect glaucoma
  • Failure to educate the patient regarding all aspects of the disease, including the genetic aspects
  • Failure to refer for a thorough systemic checkup

Special Concerns

  • Structural iris defects: These defects may present as full-thickness holes through the iris with or without sphincter involvement. A more extensive defect with most of the iris absent is seen in aniridia.
  • Other associated ocular anomalies and systemic problems are as follows:
    • Wilms tumor
    • Mental retardation
    • WAGR (Wilms tumor, aniridia, genitourinary abnormalities, mental retardation) syndrome
 


More on Aniridia

Overview: Aniridia
Differential Diagnoses & Workup: Aniridia
Treatment & Medication: Aniridia
Follow-up: Aniridia
Multimedia: Aniridia
References
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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].

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Further Reading

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Keywords

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

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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.

 
 
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