Given the important hereditary factor, it is important to evaluate the most direct members of the family.To explain the ocular alterations, there is a theory of the mechanism postulated by Shields et al., which implies an arrest in the migration of neural crest cells towards the third trimester of gestation, which leads to the persistence of primordial endothelial tissue in the iris and anterior chamber angle. Contraction of these membranes after birth lead to the progressive changes seen in some patients. This primordial endothelium also generates an excessive and atypical basement membrane, especially near the limbal corneal junction, which accounts for the prominent Schwalbe line. In the case of secondary glaucoma, it would be the consequence of dysgenesis in the chamber sinus. Signs and symptoms
Disease manifestations:
Regarding the age of diagnosis, this differs according to the intensity of the symptoms, ranging from asymptomatic to florid symptoms, characterized by ocular and systemic diseases, affecting multiple organs that have in common their origin in the neural crest. Eye manifestations:
Bilateral ocular manifestations are usually pathognomonic of the disease. In the case of children who develop glaucoma, they may attend the consultation with signs and symptoms of buphthalmos, photosensitivity, tearing, corneal decompensation, which associated with poor vision, can be completed with a strabismus. In the case of the adult, there is a greater chance of not presenting symptoms, so an ophthalmological control may be required to detect the problem.
Axenfeld–Rieger syndrome is characterized by abnormalities of the eyes, teeth, and facial structure. Rieger syndrome, by medical definition, is determined by the presence of malformed teeth, underdeveloped anterior segment of the eyes, and cardiac problems associated with the Axenfeld anomaly. The term "Rieger syndrome" is sometimes used to indicate an association with glaucoma. Glaucoma occurs in up to 50% of patients with Rieger syndrome. Glaucoma develops during adolescence or late childhood, but often occurs in infancy. In addition, a prominent Schwalbes line, an opaque ring around the cornea known as posterior embryotoxon, may arise with hypoplasia of the iris. Below average height and stature, stunted development of the mid-facial features and mental deficiencies may also be observed in patients. References
Further reading
Amendt, Brad A., ed. (2005). The Molecular Mechanisms of Axenfeld-Rieger Syndrome. Medical Intelligence Unit. Springer. doi:10.1007/0-387-28672-1. ISBN 978-0-387-28672-3. Agarwal, Sunita; Agarwal, Athiya; Apple, David J., eds. (2002). "Axenfeld-Rieger Syndrome". Textbook of Ophthalmology. Jaypee Brothers. pp. 1049–51. ISBN 978-81-7179-884-1. Shields, M.Bruce; Buckley, Edward; Klintworth, Gordon K.; Thresher, Randy (1985). "Axenfeld-Rieger syndrome. A spectrum of developmental disorders". Survey of Ophthalmology. 29 (6): 387–409. doi:10.1016/0039-6257(85)90205-X. PMID 3892740. Alward, Wallace L.M. (2000). "Axenfeld-Rieger syndrome in the age of molecular genetics". American Journal of Ophthalmology. 130 (1): 107–15. doi:10.1016/S0002-9394(00)00525-0. PMID 11004268. External links

Axenfeld Rieger syndrome at NIHs Office of Rare Diseases
Axenfeld Rieger anomaly with cardiac defects and sensorineural hearing loss at NIHs Office of Rare Diseases