Aniridia
Last updated 9 Apr 2026
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Aniridia is an eye disorder that is characterised by a complete or partial absence of the colored part of the eye (the iris). Aniridia is typically present from birth (congenital) and affects both eyes. The pupils may also be abnormal or misshapen.
Description
Aniridia is an eye disorder that is characterised by a complete or partial absence of the colored part of the eye (the iris). Aniridia is typically present from birth (congenital) and affects both eyes. The pupils may also be abnormal or misshapen.
People with aniridia can have other eye problems that may be congenital or develop later in life. Clouding of the lenses of the eyes (cataracts) occurs in most people with aniridia. Affected individuals often have involuntary eye movements (nystagmus) or an increased sensitivity to light (photophobia). Underdevelopment of a specific region at the back of the eye (foveal hypoplasia) can reduce the sharpness of vision (visual acuity).
Additional signs and symptoms of aniridia may include problems with the cornea (aniridia-associated keratopathy). The cornea is the clear outer covering of the eye. Aniridia can also cause increased pressure in the eye (glaucoma) in late childhood through early adulthood. In some affected individuals, the structures that carry information from the eyes to the brain are underdeveloped (optic nerve hypoplasia). Many of these eye problems contribute to vision loss that worsens over time. The severity of symptoms is typically the same in both eyes.
In rare cases, individuals with aniridia have additional health problems, which can include behavioural issues, metabolic disorders, and problems detecting odors.
Aniridia can affect the eyes alone (isolated) or it can occur with other features as part of a syndrome. Aniridia is a common feature of certain genetic conditions including Gillespie syndrome and WAGR syndrome.
Injuries to the head or eyes can also cause aniridia. This type of aniridia is not genetic and can occur at any age.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+Inherited or new variant. More than one pattern can apply in different cases.
Related genes
Other names
Absent iris
Congenital aniridia
Irideremia
Related patient information and medicines
Patient information leaflet
Eye problems
Aniridia Aniridia is the absence of the iris, usually involving both eyes. It can be genetic, present from birth or caused by an injury. Iris heterochromia and anisocoria Heterochromia is the term used when a person's two irises are different colours, sometimes partially and sometimes ... It can be a lifelong condition due to the person's genetic.
Patient information leaflet
Wilms' tumour
See separate leaflet called Cancer - A General Overview for more general information about cancer How common is a Wilms' tumour. Very rarely, people who develop Wilms' tumour have other specific conditions which are present at birth (congenital malformations). These include a lack of an iris at the front of the eye (aniridia). The iris is the.
Further reading and references
- Aniridia; MedlinePlus, National Library of Medicine.
- Chao LY, Huff V, Strong LC, Saunders GF. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000;15(4):332-9. doi: 10.1002/(SICI)1098-1004(200004)15:43.0.CO;2-1.
- Grainger RM, Lauderdale JD, Collins JL, Trout KL, McCullen Krantz S, Wolfe SS, Netland PA. Report on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond. Ocul Surf. 2023 Jul;29:423-431. doi: 10.1016/j.jtos.2023.05.010. Epub 2023 May 27.
- Hall J, Corton M, Fries FN, Obst J, Grunauer-Kloevekorn C, Seitz B, Waizel MDV, Javorszky E, Tory K, Maka E, Amini M, Suiwal S, Stachon T, Szentmary N. Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations. Ophthalmol Ther. 2025 May;14(5):835-856. doi: 10.1007/s40123-025-01122-1. Epub 2025 Mar 26.
- Kit V, Cunha DL, Hagag AM, Moosajee M. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia. JCI Insight. 2021 Jul 22;6(14):e148406. doi: 10.1172/jci.insight.148406.
- Kit V, Oluonye N, Moosajee M. PAX6 Aniridia Syndrome. 2003 May 20 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1360/
- Lee H, Khan R, O'Keefe M. Aniridia: current pathology and management. Acta Ophthalmol. 2008 Nov;86(7):708-15. doi: 10.1111/j.1755-3768.2008.01427.x. Epub 2008 Oct 6.
- Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi: 10.1002/ajmg.a.32209.
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