Rieger syndrome (axenfeld-rieger syndrome; dysgenesis mesodermalis corneae et irides; dysgenesis mesostromalis; axenfeld posterior embryotoxon-juvenile glaucoma)

General: Autosomal dominant; neural crest abnormality; 50% of patients develop glaucoma.

Ocular: Microphthalmia; congenital glaucoma; iris hypoplasia; deformed and acentric pupil; anterior synechiae; aniridia; microcornea; corneal opacities in Descemet membrane parallel to the limbus; dislocated lens; optic atrophy; cataract; strabismus; ptosis; hypertelorism; keratoconus; posterior embryotoxon; broad iris processes to embryotoxon; iris stromal hypoplasia; corectopia; polycoria; secondary glaucoma.

Clinical: Face wide; hypodontia; underdeveloped maxilla; teeth deformities; myotonic dystrophy; facial anomalies: maxillary hypoplasia, protrusion of the lower lip, broad, flat nose; dental anomalies include absent teeth, piglike incisors, and decreased crown size; hypospadias.

Eagle RC. Congenital, developmental and degenerative disorders of the iris and ciliary body. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. I. Philadelphia: WB Saunders, 1994:367-387.

Montes JG, Montes JCG. Syndrome de Rieger, Anomalie de Axenfeld con Glaucoma Juvenil Familiar. Arch Soc Ophth Hisp Am 1967; 27:93.

Rieger H. Beitrage zur Kenntnis seltener Missbildungen der Iris. Graefes Arch Clin Esp Ophthalmol 1935; 133:602.

Wesley RK, et al. Rieger's syndrome: oligodontia and primary mesodermal dysgenesis of the iris - Clinical features and report of an isolated case. J Pediatr Ophthalmol Strabismus 1978; 15:67-70.