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Aniridia in the Newborn Treatment & Management

  • Author: Sophie Bakri, MD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Dec 03, 2013
 

Medical Care

See the list below:

  • Medical management of glaucoma associated with aniridia
    • Medical therapy of the glaucoma is the initial treatment of choice. It initially may be efficacious in reducing intraocular pressure, but most patients with aniridia who have glaucoma eventually require surgical therapy.
    • Miotics often are tried first; they improve aqueous outflow by contracting the ciliary muscle. However, the induced myopia may not be well tolerated by young patients. Adrenergic agonists, beta-blockers, and carbonic anhydrase inhibitors also may be tried, but they often are ineffective long term as the patient becomes refractory to them. Whenever a new medication is to be instituted, a trial should be performed, adding and removing only one medication at a time.
  • Optical correction
    • Patients with aniridia may be emmetropic, myopic, or hyperopic. Spectacle or contact lens correction of significant refractive errors should begin in the newborn. In cases of lens subluxation, the refractive error should be corrected through the aphakic portion of the pupil.
    • To lessen photophobia, patients may be fitted with tinted or iris contact lenses or with tinted spectacle lenses at any age.
  • Treatment of amblyopia and strabismus: In cases of strabismus, patching of the favored eye is indicated to treat amblyopia. Cycloplegic refraction should be performed, and appropriate correction should be given. Strabismus surgery may be indicated at an early age to enhance binocularity.
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Surgical Care

No convincing opinion exists as to which surgical procedure is the treatment of choice for aniridic glaucoma; none has been considered reliable and predictable in efficacy. Surgical procedures for the treatment of aniridic glaucoma include the following:

  • Goniotomy
    • Although goniotomy has been suggested early in the management of aniridic glaucoma, reported series have shown disappointing results. The procedure is hazardous in these eyes, since the Barkan goniotomy knife is passed over the vulnerable lens and zonules in the anterior chamber. However, results of prophylactic goniotomy have been encouraging.
    • Two separate surgeries on each eye may be performed to strip the tissue extending over the trabecular meshwork, working on 180° of the angle each time. The benefit of this prophylactic procedure is not yet proven, and it should be delayed until after the first year of life. Because of the shallow anterior chamber angle, patients with aniridia should have gonioscopy performed yearly. If the iris processes are becoming more prominent, strong consideration should be given to performing a prophylactic goniotomy.
  • Trabeculotomy: This procedure is considered safer than goniotomy, since it relies on the posterior approach (ab externo), which avoids the lens and zonules. However, it is not without risk and has been associated with the need for repeat surgery.
  • Trabeculectomy: Most surgeons opt for trabeculectomy after a few attempts at goniotomy or trabeculotomy. However, the risk of vitreous loss is increased in aniridia, and cataract formation or progression may occur with inadvertent damage to the lens during surgery. Nelson et al reported that 5 of 14 patients needed reoperation or had failure with trabeculectomy[3] ; others have reported initial success rates from 0-9%.
  • Setons: The success rate of the Molteno implant has been reported as 83% of 6 eyes. This device cannot be recommended as the initial operation of choice because of the higher risk of complications.
  • Cyclophotocoagulation and cyclocryotherapy: Both these modalities are designed to destroy part of the ciliary body. Cyclophotocoagulation is performed with the yttrium-aluminum-garnet (YAG) laser. Both methods must be split into multiple treatment sessions to avoid complications, such as uveitis, phthisis bulbi, uveal effusion, vitreous hemorrhage, and prolonged hypotony. Cryotherapy may accelerate peripheral corneal opacification or cataract progression. Therefore, these procedures must be approached with extreme caution, and they have been associated with hypotony and vitreous hemorrhage.
  • Cataract extraction: When the cataract is dense, removal may result in some improvement in visual acuity. Lensectomy performed with an aspiration-cutting instrument has been recommended. Capsule-supported intraocular lenses are not appropriate for patients with ectopia lentis.
  • Penetrating keratoplasty: This may be indicated for corneas that have opacified from pannus. However, the prognosis is guarded because of rejection and underlying amblyopia or other structural defects.
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Consultations

See the list below:

  • Genetic counseling
    • All patients with aniridia should be referred for genetic counseling. A full family history should be sought, with specific attention to ocular abnormalities, low vision, genitourinary abnormalities, Wilms tumor, and mental retardation.
    • A full physical examination should be performed concentrating on the genitourinary system. Imaging of the abdomen and brain, preferably MRI, is indicated.
    • Chromosome analysis of the patient and family members and genetic analysis of the PAX6 gene should be performed.
    • Parents and close relatives should have a careful ocular examination performed.
    • Fluorescein angiography of the iris and fundus may reveal subtle abnormalities not found clinically, for example, abnormalities of the iris collarette and foveal avascular zone.
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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 

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, Sigma Xi, Southern Medical Association, Pan-American Association of Ophthalmology

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, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

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, American Ophthalmological Society

Disclosure: Nothing to disclose.

References
  1. Edén U, Riise R, Tornqvist K. Corneal involvement in congenital aniridia. Cornea. 2010 Oct. 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. 2010 Aug 22. 16:1705-11. [Medline]. [Full Text].

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

  4. Brauner SC, Walton DS, Chen TC. Aniridia. Int Ophthalmol Clin. 2008 Spring. 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. 1999 Sep. 117(9):1144-8. [Medline].

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

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

  9. Hamming N, Wilensky J. Persistent pupillary membrane associated with aniridia. Am J Ophthalmol. 1978 Jul. 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. 1980 Apr. 89(4):531-9. [Medline].

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

  12. Jesberg DO. Aniridia with retinal lipid deposits. Arch Ophthalmol. 1962 Sep. 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. 1997 Jan. 38(1):108-20. [Medline].

  14. Kremer I, Rajpal RK, Rapuano CJ, et al. Results of penetrating keratoplasty in aniridia. Am J Ophthalmol. 1993 Mar 15. 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. 1974 Apr. 77(4):513-6. [Medline].

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

  17. Margo CE. Congenital aniridia: a histopathologic study of the anterior segment in children. J Pediatr Ophthalmol Strabismus. 1983 Sep-Oct. 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. 2005 Jul-Aug. 15(4):451-7. [Medline].

  19. Nishida K, Kinoshita S, Ohashi Y, et al. Ocular surface abnormalities in aniridia. Am J Ophthalmol. 1995 Sep. 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. 2005 Mar. 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. 1992 Apr. 110(4):503-5. [Medline].

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Aniridia. Note the almost complete absence of the iris.
 
 
 
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