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Aniridia Clinical Presentation

  • Author: Daljit Singh, MBBS, MS, DSc; Chief Editor: Hampton Roy, Sr, MD  more...
Updated: Mar 16, 2016


The history is straightforward. The condition is discovered early in life, especially in whites. In blacks, the condition might remain undiscovered for a long time until an ophthalmologist examines the eyes for visual problems. The patient presents with the following problems:

  • Absence of iris
  • Nystagmus
  • Strabismus
  • Reduced vision

Thorough family history includes the following:

  • Specific inquiry about any ocular abnormality and/or low vision
  • Dental anomaly
  • Protruding umbilicus
  • Genitourinary abnormalities (Wilms tumor)
  • Mental retardation

Perform a thorough systemic examination of the patient.



A detailed ocular examination is sometimes difficult because of photophobia and nystagmus. If slit lamp flash pictures are taken, they can provide detailed information on corneal opacities and blood vessels, the depth of the anterior chamber, the edge of a transparent dislocated lens, the presence or absence of zonular fibers, and the presence of lenticular opacities. Photographs are useful to observe changes in the tissues with the passage of time. A picture session is especially important in children.[16]

The patient might show the following findings:

  • Nystagmus
  • Strabismus
  • Photophobia
  • Cornea
    • Pannus (shown in the images below)
      Aniridia with superiorly dislocated cataract. Aniridia with superiorly dislocated cataract.
      Aniridia. Close-up of the superior limbus of same Aniridia. Close-up of the superior limbus of same patient as in the image above to show pannus.
    • Epithelial ulcers
    • Aniridic keratopathy
    • Arcus juvenilis
    • Microcornea
  • Anterior chamber
    • Best judged with a slit lamp microscope
    • Configuration dependent upon the position of the crystalline lens
  • Iris
    • Complete absence of iris on oblique illumination
    • Hypoplasia with irregular pupillary margins (atypical coloboma of pupil)
    • Root of the iris visible on gonioscopy
  • Angle of the anterior chamber - Trabecular meshwork may be partially or completely covered by the iris stump.
  • Crystalline lens
    • Transparent or opaque
    • Ectopia lentis
    • Completely dislocated lens (shown in the image below)
      In-the-bag intraocular lens. The lens has been disIn-the-bag intraocular lens. The lens has been displaced superiorly.
  • Vitreous - Usually normal
  • Fundus
    • Optic nerve hypoplasia
    • Macular reflex dull
    • Glaucomatous cupping
  • Intraocular pressure
    • Normal
    • Increased
  • Vision - Usually about 20/200 or less


Aniridia is caused by the following:

  • An identifiable chromosome deletion of the short arm of chromosome 11, including band p13.
  • Patients with aniridia who have a positive family history: Two genetic loci for aniridia have been identified, one (AN1) on chromosome arm 2p and one (AN2) on chromosome 11.
  • As an isolated ocular malformation, aniridia is an autosomal dominant disorder, which is caused by a mutation in the PAX6 (paired box gene family) gene.
Contributor Information and Disclosures

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: American Society of Cataract and Refractive Surgery, Indian Medical Association, All India Ophthalmological Society, Intraocular Implant and Refractive Society, India, International Intra-Ocular Implant Club

Disclosure: Nothing to disclose.


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

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

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.

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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.
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