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)

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. Signs of Peters anomaly were not explained in the report by Perveen et al. [4].