aniridia
Sign in to saveAlso known as aplasia of iris
Aniridia is a condition characterized by the absence or near absence of the iris, the colored, muscular ring in the eye that controls the size of the pupil and regulates the amount of light entering the eye. This absence results in a primarily black appearance of the central eye. Aniridia can be congenital, typically affecting both eyes, or caused by a penetrant injury. Congenital aniridia is not simply an iris defect but a more complex condition affecting multiple parts of the eye, with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and t
Key facts
- Medical condition.name
- Aniridia
- Medical condition.image
- Aniridia.jpg
- Medical condition.caption
- A man with aniridia
via Wikipedia infobox
Research
2,156 papers- [Congenital aniridia in children].La Revue du praticien · 2019
- Aniridia.European journal of human genetics : EJHG · 2012
- PAX6 disease models for aniridia.Indian journal of ophthalmology · 2022
- Aniridia.International ophthalmology clinics · 2008
- Future directions in managing aniridia-associated keratopathy.Survey of ophthalmology · 2023
via PubMed
Wikidata facts
- Subclass of
- disease
- Image
- Aniridia.jpg
Show 8 more facts
- on focus list of Wikimedia project
- WikiProject Medicine
- Commons category
- Aniridia
- NCI Thesaurus ID
- C84563
- health specialty
- medical genetics
- exact match
- purl.obolibrary.org/obo/HP_0000526
- ICD-9-CM
- 743.45
- external data available at URL
- www.nanbyou.or.jp/entry/5452
- genetic association
- PAX6
via Wikidata · CC0
~6 min read
Encyclopedic overview
8 sectionsContents
- PAX6
- Types
- Symptoms and signs
- Mutational analysis
- Treatment
- See also
- References
- External links
Aniridia is a condition characterized by the absence or near absence of the iris, the colored, muscular ring in the eye that controls the size of the pupil and regulates the amount of light entering the eye. This absence results in a primarily black appearance of the central eye. Aniridia can be congenital, typically affecting both eyes, or caused by a penetrant injury. Congenital aniridia is not simply an iris defect but a more complex condition affecting multiple parts of the eye, with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with several other ocular complications, including nystagmus, amblyopia, buphthalmos, and cataract. In some cases, aniridia occurs as part of a broader syndrome, like WAGR syndrome (kidney nephroblastoma, genitourinary anomalies and intellectual disability) or Gillespie syndrome (cerebellar ataxia).
==PAX6==
Excerpted from Wikipedia’s “aniridia” article, available under the CC BY-SA 4.0 licence.