Axenfeld-Rieger Syndrome

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Catherine Yang	+ 588 word(s)	588	2020-12-15 07:17:03

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Yang, C. Axenfeld-Rieger Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4906 (accessed on 25 September 2026).

Yang C. Axenfeld-Rieger Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4906. Accessed September 25, 2026.

Yang, Catherine. "Axenfeld-Rieger Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4906 (accessed September 25, 2026).

Yang, C. (2020, December 24). Axenfeld-Rieger Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4906

Yang, Catherine. "Axenfeld-Rieger Syndrome." Encyclopedia. Web. 24 December, 2020.

Axenfeld-Rieger Syndrome

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome

Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.

genetic conditions

References

Chang TC, Summers CG, Schimmenti LA, Grajewski AL. Axenfeld-Rieger syndrome:new perspectives. Br J Ophthalmol. 2012 Mar;96(3):318-22. doi:10.1136/bjophthalmol-2011-300801.
D'haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T,Casteels I, De Jaegere S, Hooghe S, Wuyts W, van den Ende J, Roulez F,Veenstra-Knol HE, Oldenburg RA, Giltay J, Verheij JB, de Faber JT, Menten B, DePaepe A, Kestelyn P, Leroy BP, De Baere E. Expanding the spectrum of FOXC1 andPITX2 mutations and copy number changes in patients with anterior segmentmalformations. Invest Ophthalmol Vis Sci. 2011 Jan 21;52(1):324-33. doi:10.1167/iovs.10-5309.
Hjalt TA, Semina EV. Current molecular understanding of Axenfeld-Riegersyndrome. Expert Rev Mol Med. 2005 Nov 8;7(25):1-17. Review.
Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. A review of anteriorsegment dysgeneses. Surv Ophthalmol. 2006 May-Jun;51(3):213-31. Review.
Phillips JC, del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ, Wiggs JL. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996Sep;59(3):613-9.
Strungaru MH, Dinu I, Walter MA. Genotype-phenotype correlations inAxenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2mutations. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):228-37.
Tümer Z, Bach-Holm D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1mutations. Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

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: 1.2K

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

References