 | This article may be too technical for most readers to understand. (February 2015) |
| Aniridia | |
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| A man with aniridia | |
| Specialty | Medical genetics  |
Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eyes are usually involved, or caused by a penetrant injury.[1] Isolated aniridia is a congenital disorder that is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes.[2] Vision may be severely compromised and the disorder is frequently associated with some ocular complications: nystagmus, amblyopia, buphthalmos, and cataract.[1] Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome (kidney nephroblastoma (Wilms tumour), genitourinary anomalies and intellectual disability), or Gillespie syndrome (cerebellar ataxia).
- ^ a b Lang, Gerhard K.; Gareis, O. (2007). Ophthalmology: a pocket textbook atlas (2nd ed.). Stuttgart ; New York: Thieme. p. 208. ISBN 978-1-58890-555-0.
- ^ Singh, Daljit; Arun Verma (17 January 2008). "Aniridia". eMedicine. Retrieved 2 February 2010.