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Axenfeld-Rieger syndrome


Other Names for this Disease
  • Goniodysgenesis hypodontia
  • Iridogoniodysgenesis with somatic anomalies
  • Rieger syndrome
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Overview



What is Axenfeld-Rieger syndrome?

What are the signs and symptoms of Axenfeld-Rieger syndrome?

How is Axenfeld-Rieger syndrome inherited?


What is Axenfeld-Rieger syndrome?

Axenfeld-Rieger syndrome refers to a spectrum of developmental eye disorders. Common eye symptoms include cornea defects, iris defects, and glaucoma. About 50% of affected individuals become blind from glaucoma. Other associated developmental defects commonly involve the teeth and facial bones. [1][2][3][4][5]. Click here to view a diagram of the eye.

There are three types of Axenfeld-Rieger syndrome, which are distinguished by their genetic cause. Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene and Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene.[5][6] The gene that causes Axenfeld-Rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13.[7] Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.[5][6][7]
Last updated: 4/11/2011

What are the signs and symptoms of Axenfeld-Rieger syndrome?

Eye symptoms of Axenfeld-Rieger syndrome include posterior embryotoxon, cloudy cornea, iris strands, abnormal location of the pupil, abnormal pupil margins, abnormally large or small pupils, multiple pupils, glaucoma, strabismus, cataract, macular degeneration, and coloboma.[1][4]

Developmental defects associated with Axenfeld-Rieger syndrome most commonly involve the teeth and facial bones. Symptoms involving the teeth include peg-like incisors, missing teeth, and abnormal spacing of teeth. Symptoms of the facial bones include underdevelopment of the upper jaw and protruding lower lip. Another common developmental defect is umbilical protrusion. Cases of wide spaced eyes and empty-sella syndrome have also been reported.[1][2][4]
Last updated: 4/11/2011

How is Axenfeld-Rieger syndrome inherited?

Axenfeld-Rieger syndrome is inherited in an autosomal dominant manner. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual only has to have one mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.

Each child of an individual with Axenfeld-Rieger syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Axenfeld-Rieger syndrome, although they could be more or less severely affected than their parent.
Last updated: 4/11/2011

References
  1. JD Brandt. Congenital glaucoma. In: M Yanoff, JS Duker, JJ Augsburger, DT Azar, GR Diamond, JJ Dutton, D Miller, NA Rao, ES Rosen, AA Sadun, M Sherwood, J Sugar, JL Wiggs. Yanoff: Ophthalmology, 2nd ed.. St. Louis, MO: Mosby, Inc; 2004;
  2. Traboulsi EI. Malformations of the anterior segment of the eye. In: Traboulsi EI, ed. Genetic Diseases of the Eye. New York, NY. Oxford Publishing Press, Inc.; 1998:81-88..
  3. Traboulsi EI. A Compendium of Inherited Disorders and the Eye. New York, NY: Oxford University Press, Inc; 2006: 22-25..
  4. Inci Irak-Dersu. Glaucoma, Secondary Congenital. eMedicine. 2010; http://www.emedicine.com/oph/topic141.htm. Accessed 4/11/2011.
  5. Axenfeld-Rieger syndrome type 1. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/180500. Accessed 4/11/2011.
  6. Axenfeld-Rieger syndrome type 3. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/602482 . Accessed 4/11/2011.
  7. Axenfeld-Rieger syndrome type 2. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/601499. Accessed 4/11/2011.