<unk>  is the name commonly given to a spectrum of autosomal dominant developmental disorders. It is so named after the German ophthalmologist Theodor<unk> . 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.
Axenfeld syndrome
Joubert syndrome
Zunich-Kaye syndrome
Foster Kennedy syndrome
Rett syndrome
Hurler-Scheie syndrome
Rajab-Spranger syndrome
Pelizaeus-Merzbacher disease