Axenfeld syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Synonyms and keywords: Axenfeld-Rieger syndrome; Hagedoom syndrome

Overview[edit | edit source]

Axenfeld syndrome is the name commonly given to a spectrum of autosomal dominant developmental disorders. It is so named after the German ophthalmologist Theodor Axenfeld. Although most recognized for its correlation with the onset of glaucoma in the eye, the AR malformation is itself not limited to the eye but describes a fetal anomaly of bone/tooth development as well as mental retardation.

The molecular genetics of the disease are poorly understood, and centers on two genes identified by cloning of chromosomal beakpoints from patients.

The most characteristic feature is a distinct posterior arcuate ring, known as an "embryotoxon". The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea).

The condition is heritable as an autosomal dominant trait.

References[edit | edit source]

T. Axenfeld: "Embryotoxon cornea posterius", Berichte der Deutschen ophthalmologischen Gesellschaft, 1920, 42: 301.

Template:Congenital malformations and deformations of eye, ear, face and neck

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