Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)


Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance -
Age of onset Infancy
  • Q13.1
  • C0003076
  • C2931795
  • C538293
  • D015783
  • 10002532


Disease definition

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms).


The annual incidence of isolated aniridia is estimated at 1/ 64,000- 1/ 96,000.

Clinical description

Isolated aniridia can occur in association with a range of other ocular anomalies including cataracts, glaucoma (usually occuring during adolescence), corneal pannus, optic nerve hypoplasia, absence of macular reflex, ectopia lentis, nystagmus, and photophobia, all of which generally result in poor vision. Syndromic aniridia is associated with other non ophthalmological anomalies, for instance: nephroblastoma (Wilms tumor), genitourinary abnormalities and intellectual deficit in the case of the WAGR syndrome (see this term), or other developmental anomalies in more rare syndromes.

Expert reviewer(s)

  • Pr Michael PETERSEN

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Summary information
Practical genetics
Guidance for genetic testing
Article for general public
Clinical genetics review
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.