Diagnosis
Although most recognized for its correlation with the onset of glaucoma, the malformation is not limited to the eye, as Axenfeld–Rieger 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". In severe cases, iris may be adherent to the cornea anterior to the Schwalbes line.One of the three known genetic mutations which cause Rieger syndrome can be identified through genetic samples analysis. About 40% of people with Axenfeld–Rieger have displayed mutations in genes PITX2, FOXC1, and PAX6. The difference between Type 1, 2, and 3 Axenfeld–Rieger syndrome is the genetic cause, all three types display the same symptoms and abnormalities. Classification
The OMIM classification is as follows:

Detection of any of these mutations can give patients a clear diagnosis and prenatal procedures such as preimplantation genetic diagnosis, chorionic villus sampling and amniocentesis can be offered to patients and prospective parents. Management
One of the surgical techniques used to treat this rare disease is the Phakic Retroiridian Pupilloplasty is an original surgical technique involving the creation of a sclerocorneal incision through a peripheral iridotomy, with the surgeon working behind the iris and creating a neopupil with an anterior chamber vitrectome. It requires very few follow-up visits and the patients recovery is fast. Eponym
It is named after the German ophthalmologist Theodor Axenfeld who studied anterior segment disorders, especially those such as Rieger syndrome and the Axenfeld anomaly.
Using a slit lamp, a posterior embryotoxon characterized by a prominent anteriorly displaced Schwalbes ring near the temporal corneal limbus can be revealed. The unexpected finding of a posterior embryotoxon as a single whitish irregular arcuate ridge, on routine examination, is not necessarily a diagnosis of ARS, as this occurs in a percentage estimated in the literature from 8% to 15% of the normal population. In the case of gonioscopy, we can observe that the extension of the posterior embryotoxon can be greater and be present in the 360○, with a variable thickness of the annulus and unusually detached and hanging within the anterior chamber. Regarding the iris, we can observe peripheral extensions to Schwalbes line, which can be thin or thick and extend over the trabecular meshwork, obscuring the scleral spur and even pulling the iris and producing corectopia in iris tissue that can range from atrophy mild stromal to the presence of uveal ectropion, pseudopolycoria or even absence of iris. These chamber sinus anomalies predispose half of the cases to open-angle glaucoma, which can manifest throughout life and therefore require regular ophthalmological check-ups. Other related anomalies are strabismus due to alteration in the insertions of the extraocular muscles or secondary to amblyopia, and with a predisposition to exotropia and retinal detachment.Systemic manifestations:
In the case of pathologies that affect the extraocular organs, greater attention must be paid to anomalies in the cardiovascular system, since they represent the most worrying associations due to their repercussions at the systemic level.