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