Table 2 of Law, Mol Vis 2011; 17:1231-1238.


Table 2. Clinical presentations and mutations of cases with asymmetric anterior segment phenotype between the two eyes of an individual with Axenfeld-Rieger syndrome [1,4,5].


Reference
Anterior segment
phenotype of first eye
Anterior segment
phenotype of second eye
Additional
ocular findings

Glaucoma
Dental
abnormalities
Umbilical
abnormalities

Mutation
[5] Near total absence of iris (aniridia) full thickness iris stromal defects Unknown Unknown Unknown Unknown Unknown
[4] Peters anomaly Rieger anomaly, anterior polar cataract Mild unilateral foveal hypoplasia Absence Presence Presence PITX2 Ivs 3 (−2); A>T
[4] Axenfeld anomaly, iris hypoplasia Peters anomaly None Absence Presence Unknown PITX2 C ins 1083
Current patient Rieger anomaly, Axenfeld anomaly Aniridia None Presence Presence Presence PITX2 c. 199 C>T (Q67X)