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)

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].

Law, Mol Vis 2011; 17:1231-1238. http://www.molvis.org/molvis/v17/a138

©2011 Molecular Vision http://www.molvis.org/molvis/

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