Medical Care

Prophylaxis in patients with aniridia is directed toward the prevention of glaucoma, which includes the following:

Medical treatment with miotics
Surgical separation of the iris from the trabecular meshwork in selected cases

Limbal stem cell deficiency associated with aniridia can be treated with the following:

Lubricating drops
Topical steroid pulses
Vitamin A ointments
Autologous serum drops
Topical bevacizumab drops have been reported in one study. ^[18]
Limbal stem cell transplantation

The medical treatment of aniridia is directed toward control of intraocular pressure, which includes the topical use of the following:

Miotics
Beta-blockers
Sympathomimetics
Carbonic anhydrase inhibitors
Prostaglandin analogues

The chances of failure with local antiglaucoma treatment are high.

Treatment of photophobia and nystagmus in patients with aniridia is as follows:

Tinted or iris contact lenses
Tinted spectacle lenses
Tinted intraocular lenses (IOLs) ^[19]
By the above measures, reducing the amplitude and frequency of nystagmus is possible.

Refractive errors are treated with careful refraction and complete correction.

Treatment of amblyopia and strabismus in patients with aniridia is as follows:

Usually, the potential visual acuity in both eyes should be symmetrical.
When the vision is unequal without structural difference, vigorous amblyopia exercises should be performed in the worst eye.
Binocularity can be achieved if macular hypoplasia is not severe.
Strabismus surgery is indicated at an early age.

Surgical Care

Management of corneal opacification in patients with aniridia is as follows:

Limbal stem cell transplantation
Keratoplasty
Keratoprosthesis ^[20]

Management of cataract in patients with aniridia is as follows:

In-the-bag lens implantation in cases without lens dislocation
Use of opaque intracapsular rings to produce an artificial pupil or use of a large intraocular lens with a clear central optic and an opaque periphery
In-the-bag IOL placement with intracapsular rings, when there is slight lens displacement
Lens extraction followed by tinted/artificial pupil scleral-fixated posterior chamber lens
Lens extraction followed by contact lens correction, if the lens is grossly out of place

Management of glaucoma in patients with aniridia is as follows:

Goniotomy: This includes prophylactic and early surgical therapy. In early surgical therapy, some risk to the crystalline lens and the zonules exists because the surgery is performed from the anterior approach. ^[21]
Trabeculotomy is safer than goniotomy. The tissues can be defined more clearly, and accurate surgery can be performed. However, failures are common.
Filtering procedures: Greater danger of injury to the crystalline lens and disturbance of the vitreous exists because the iris is absent. Nonperforating filtration surgery techniques are safer, because the anterior chamber remains undisturbed. Since glaucoma develops in young patients with aniridia, the intraoperative use of mitomycin is justified. Fugo blade can be used to produce a transconjunctival microfiltration track of 200-300 µm in any part of the angle, away from the lens and the vitreous.
Laser therapy to angle abnormalities
Cyclocryotherapy: Endocyclophotocoagulation in selected cases
Glaucoma valve procedure: The choice of the techniques and the order in which they are used depends upon the peculiarities of the case and the perception of the surgeon.

Consultations

See the list below:

Banded chromosome analysis on the patient and both parents
Linkage analysis when large families are available
Genetic counseling

Prevention

Patients with aniridia should have proper genetic counseling.

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

Long-Term Monitoring

Lifelong, regular, and careful follow-up care of aniridia is essential with an ophthalmologist, with particular attention to the ocular surface and glaucoma monitoring and treatment.

Hittner HM. Aniridia. Robert ED, Shields MB, et al, eds. The Glaucomas. St. Louis: Mosby; 1989. 869-884.
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. 1984 May-Jun. 28(6):621-42. [QxMD MEDLINE Link].
Roy FH. Ocular Syndromes and Systemic Disease. 3rd ed. Lippincott Williams & Wilkins; 2002.
Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol. 1977 May. 83(5):718-24. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Jastaneiah S, Al-Rajhi AA. Association of aniridia and dry eyes. Ophthalmology. 2005 Sep. 112(9):1535-40. [QxMD MEDLINE Link].
Francois J, Coucke D, Coppieters R. Aniridia-Wilms' tumour syndrome. Ophthalmologica. 1977. 174(1):35-9. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Pilling GP. Wilms' tumor in seven children with congenital aniridia. J Pediatr Surg. 1975 Feb. 10(1):87-96. [QxMD MEDLINE Link].
Nevin NC, Lim JH. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. Am J Med Genet. 1990 Apr. 35(4):468-9. [QxMD MEDLINE Link].
Pearce WG. Variability of iris defects in autosomal dominant aniridia. Can J Ophthalmol. 1994 Feb. 29(1):25-9. [QxMD MEDLINE Link].
Riccardi VM, Sujansky E, Smith AC, Francke U. Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics. 1978 Apr. 61(4):604-10. [QxMD MEDLINE Link].
Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992 Nov. 2(3):232-9. [QxMD MEDLINE Link].
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. 2003 Feb. 11(2):163-9. [QxMD MEDLINE Link].
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. 2003 Sep. 24(3):161-5. [QxMD MEDLINE Link].
Roy FH. Ocular Differential Diagnosis. 7th ed. Lippincott Williams & Wilkins; 2002.
Friedman AL. Wilms' tumor detection in patients with sporadic aniridia. Successful use of ultrasound. Am J Dis Child. 1986 Feb. 140(2):173-4. [QxMD MEDLINE Link].
Lapid-Gortzak R, Santana NTY, Nieuwendaal CP, Mourits MP, van der Meulen IJE. Topical bevacizumab treatment in aniridia. Int Ophthalmol. 2017 Jun 15. [QxMD MEDLINE Link].
Wong VW, Lam PT, Lai TY, Lam DS. Black diaphragm aniridia intraocular lens for aniridia and albinism. Graefes Arch Clin Exp Ophthalmol. 2005 May. 243(5):501-4. [QxMD MEDLINE Link].
Akpek EK, Harissi-Dagher M, Petrarca R, et al. Outcomes of Boston keratoprosthesis in aniridia: a retrospective multicenter study. Am J Ophthalmol. 2007 Aug. 144(2):227-231. [QxMD MEDLINE Link].
Walton DS. Aniridic glaucoma: the results of gonio-surgery to prevent and treat this problem. Trans Am Ophthalmol Soc. 1986. 84:59-70. [QxMD MEDLINE Link]. [Full Text].
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. 1992 Dec. 51(6):1286-94. [QxMD MEDLINE Link]. [Full Text].
Schroeder HW, Orth U, Meyer-Konig E, Gal A. [Hereditary foveal hypoplasia - clinical differentiation]. Klin Monbl Augenheilkd. 2003 Aug. 220(8):559-62. [QxMD MEDLINE Link].

Media Gallery

Aniridia with superiorly dislocated cataract.
Aniridia. Close-up of the superior limbus of same patient as in the image above to show pannus.
Aniridia with a vascularized corneal opacity in a young patient.
Centrally placed cataractous lens and aniridia in a pediatric patient.
Aniridia. 3-D image showing absence of the inferior half of the iris and absence of most of the anterior leaf of the iris in the upper half. In the less affected area, the iris is represented mostly by the posterior pigment epithelium. No choroidal coloboma was present.
Aniridia and aphakia following perforating injury.
Single piece intraocular lens inside the bag, in a case of aniridia.
Multipiece intraocular lens inside the bag, in a case of aniridia.
In-the-bag intraocular lens. The lens has been displaced superiorly.
Aniridia. A single piece nonfoldable lens has been implanted after placing an endocapsular ring. An endocapsular ring provides better chances of centration.
Partial traumatic aniridia. The lost iris gap has been covered by the use of a lens optic that is clear in the center and is opaque at the periphery. A scleral fixated lens has been used in this case.

of 11

Author

Michael Ross, MD Clinical Instructor, University of British Columbia Faculty of Medicine, Canada

Disclosure: Nothing to disclose.

Coauthor(s)

Jean Deschênes, MD, FRCSC Professor, Research Associate, Director, Uveitis Program, Department of Ophthalmology, McGill University Faculty of Medicine; Senior Ophthalmologist, Clinical Director, Department of Ophthalmology, Royal Victoria Hospital, Canada

Jean Deschênes, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, Canadian Medical Association, Canadian Ophthalmological Society, International Ocular Inflammation Society, Quebec Medical Association

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, The Scientific Research Honor Society, Southern Medical Association, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Chief Editor

Michael Taravella, MD Director of Cornea and Refractive Surgery, Rocky Mountain Lions Eye Institute; Professor, Department of Ophthalmology, University of Colorado School of Medicine

Michael Taravella, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Eye Bank Association of America

Disclosure: Received income in an amount equal to or greater than $250 from: J&J Vision (Consultant)/Proctor<br/> for: Coronet Surgical (Consultant), no income received.

Additional Contributors

Daljit Singh, MBBS, MS, DSc † Professor Emeritus, Department of Ophthalmology, Guru Nanak Dev University; Director, Daljit Singh Eye Hospital, India

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 Intra-Ocular Implant Club, Intraocular Implant and Refractive Society, India

Disclosure: Nothing to disclose.

Richard W Allinson, MD Associate Professor, Department of Ophthalmology, Texas A&M University Health Science Center; Senior Staff Ophthalmologist, Scott and White Clinic

Richard W Allinson, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Arun Verma, MD Senior Consultant, Department of Ophthalmology, Dr Daljit Singh Eye Hospital, India

Disclosure: Nothing to disclose.