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. 2011 May 6;17:1231–1238.

Table 1. Clinical presentations of the two eyes of an individual with Axenfeld-Rieger syndrome.

Patient Year of Birth Sex Anterior segment phenotype of first eye Anterior segment phenotype of second eye Additional ocular findings Eye with Glaucoma Central corneal thickness (Right/Left eye) in micron Dental Abnormalities Umbilical Abnormalities
G.G.
1980
Male
Axenfeld & Rieger anomalies
Axenfeld & Rieger anomalies

Both eyes
560 / 545
Unknown
Unknown
K.M.
1980
Male
Rieger anomaly
Rieger anomaly
Optic nerve coloboma (right eye)
Both eyes
616 / 616
Unknown
Unknown
J.B.*
1990
Female
Axenfeld anomaly
Axenfeld anomaly
Microcornea and scleral thinning (both eyes)
None
576 / 606
Presence
Presence
M.B.*
1960
Female
Axenfeld & Rieger anomalies
Axenfeld & Rieger anomalies
Corneal scar and scleral thinning (left eye)
Both eyes
571 / left corneal scar
Presence
Unknown
A.C.
1954
Male
Axenfeld & Rieger anomalies
Axenfeld & Rieger anomalies

Both eyes

Unknown
Unknown
A.M.
2009
Female
Rieger anomaly
Rieger anomaly
Cataract and corneal scar (both eyes)
Both eyes

Unknown
Absence
H.L.
1996
Male
Axenfeld & Rieger anomalies
Axenfeld & Rieger anomalies

Both eyes
626 / not measurable
Presence
Presence
M.A. 2003
Female Axenfeld & Rieger anomalies Aniridia Both eyes 664 / 683 Presence Presence

Signs of Axenfeld anomaly include: prominent schwalbe line, iris adhesion to cornea and trabecular meshwork. Signs of Rieger anomaly include: iris hypoplasia, correctopia or polycoria, ectropion uveae. *J.B. and M.B. had a mother-and-son relationship