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Yang, C. Aniridia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4737 (accessed on 27 September 2026).
Yang C. Aniridia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4737. Accessed September 27, 2026.
Yang, Catherine. "Aniridia" Encyclopedia, https://encyclopedia.pub/entry/4737 (accessed September 27, 2026).
Yang, C. (2020, December 24). Aniridia. In Encyclopedia. https://encyclopedia.pub/entry/4737
Yang, Catherine. "Aniridia." Encyclopedia. Web. 24 December, 2020.
Aniridia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/aniridia

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

genetic conditions

References

  1. Chao LY, Huff V, Strong LC, Saunders GF. Mutation in the PAX6 gene in twentypatients with aniridia. Hum Mutat. 2000;15(4):332-9.
  2. Lee H, Khan R, O'Keefe M. Aniridia: current pathology and management. ActaOphthalmol. 2008 Nov;86(7):708-15. doi: 10.1111/j.1755-3768.2008.01427.x.
  3. 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 casesreferred with aniridia. Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi:10.1002/ajmg.a.32209.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 836
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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