Rieger syndrome 2
Overview
A rare disorder where abnormal development of the front portion of the eye causes glaucoma and impaired vision. Other abnormalities are also present.
Symptoms
Abnormal eye development Blindness Glaucoma Teeth abnormalities Underdeveloped upper jaw
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. The most characteristic feature affecting the eye is a distinct corneal posterior arcuate ring, known as an "embryotoxon". The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea).