Axenfeld syndrome
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| Axenfeld syndrome Classification and external resources |
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| ICD-9 | 743.44 |
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| DiseasesDB | 30800 |
Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is the name given to an autosomal dominant eye disorder, which also may present with other developmental disorders.
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[edit] Eponym
It is named after the German ophthalmologist Theodor Axenfeld. [1][2]
The term "Rieger syndrome" is sometimes used to indicate an association with glaucoma.[3]
[edit] Diagnosis
Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as Axenfeld syndrome when associated with the PITX2 genetic mutation usually presents congenital malformations of the face, teeth, and skeletal system.[4]
The most characteristic feature affecting the eye is a distinct corneal posterior arcuate ring, known as an "embryotoxon".[2] The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea).
[edit] Pathophysiology
The molecular genetics of Axenfeld syndrome are poorly understood, and centers on two genes identified by cloning of chromosomal beakpoints from patients.
This disorder is inheritable as an autosomal dominant trait, which means the defective gene is located on an autosome, and only one copy of the gene is sufficient to cause the disorder when inherited from a parent who has the disorder.
[edit] See also
[edit] References
- ^ synd/1284 at Who Named It
- ^ a b T. Axenfeld. Embryotoxon cornea posterius. Berichte der Deutschen ophthalmologischen Gesellschaft, 1920, 42: 301.
- ^ eMedicine - Glaucoma, Secondary Congenital : Article by Inci Irak-Dersu. Retrieved on 2008-03-24.
- ^ Meyer-Marcotty P, Weisschuh N, Dressler P, Hartmann J, Stellzig-Eisenhauer A (2008). "Morphology of the sella turcica in Axenfeld-Reiger syndrome with PITX2 mutation". J Oral Pathol Med. pending. PMID 18331556.
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