Table 2.

Summary of genetic factors associated with aniridia and aniridia-like diagnosis in humans.

Gene	Genomic Location	Function	Inheritance	Major Human Phenotype	Common ocular features, associated features	Rare ocular features, associated features	References
PAX6 OMIM # 607108	11p13	Transcription factor with a paired domain and a homeodomain	Autosomal dominant	Aniridia	Iris Hypoplasia/aniridia Foveal hypoplasia AAK Glaucoma Cataract	Optic nerve hypoplasia Peters anomaly Anosmia Diabetes	Jordan et al. (1992)
PITX2 OMIM # 601542	4q25	Transcription factor with a paired-related bicoid-type homeodomain	Autosomal dominant	Axenfeld-Rieger syndrome	Pseudopolycoria, Iris Hypoplasia Irido-corneal adhesions Glaucoma Embryotoxon Extraocular features	Peters anomaly Aniridia-like phenotypes Congenital glaucoma	Semina et al. (1996)
FOXC1 OMIM # 601090	6p25.3	Forkhead transcription factor	Autosomal dominant	Axenfeld-Rieger syndrome	Pseudopolycoria Iris Hypoplasia Irido-corneal adhesions Congenital glaucoma Embryotoxon Extraocular features	Peters anomaly Aniridia-like phenotypes Foveal hypoplasia	(Mears et al., 1998; Nishimura et al., 1998)
FOXE3 OMIM # 601094	1p33	Forkhead transcription factor	Autosomal recessive/Autosomal dominant	Cataracts with or without anterior segment dysgenesis, microphthalmia	Cataracts Peters anomaly Primary aphakia Sclerocornea Microphthalmia Extraocular features	Aniridia-like phenotypes Sclerocornea- Microphthalmia- Aphakia	(Semina et al., 2001; Valleix et al., 2006)
CYP1B1 OMIM # 601771	2p22.2	Cytochrome P450 enzyme	Autosomal recessive	Congenital glaucoma	Congenital glaucoma	Peters anomaly Aniridia-like phenotypes	Stoilov et al. (1997)