Table 1.

Summary of Major Genes Associated with Anterior Segment Dysgeneses

Gene	OMIM	Locus	Phenotypes	Mode of inheritance	Reference
PAX6	607108	11p13	Aniridia, Peters anomaly, keratitis, foveal hypoplasia, congenital cataract	AD	[3,4]
JAG1	601920	20p12	Alagille syndrome with posterior embryotoxon, iris hypoplasia, small corneal diameter, iridocorneal synechiae and corectopia	AD	[5,6]
PITX2	601542	4q25- q26	Axenfeld-Rieger syndrome, Peters anomaly, iris hypoplasia	AD	[7]
FOXC1	601090	6p25	Axenfeld-Rieger syndrome, Peters anomaly, iris hypoplasia, primary congenital glaucoma, aniridia	AD	[8,9]
FOXC2	602402	16q24.3	Lymphedema-distichiasis syndrome, ASD	AD	[10]
PITX3	602669	10q25	Congenital posterior polar cataract with or without ASD	AD	[11]
FOXE3	601094	1p32	ASD with cataract, Peters anomaly, microphthalmia	AD or AR	[12]
BMP4	112262	14q22- q23	ASD with or without A/M, systemic anomalies	AD	[13]
COL4A1	120130	13q34	Porencephaly/ small vessel brain disease with early- onset cataract or ASD in some	AD	[14,15]
CYP1B1	601771	2p22- p21	Primary congenital glaucoma, Peters anomaly, other ASD, aniridia	AR	[16]
LAMB2	150325	3p21	Pierson syndrome with microcoria or other ASD	AR	[17]
B3GALTL	610308	13q12.3	Peters Plus syndrome	AR	[18]

AD, Autosomal Dominant; AR, Autosomal Recessive; A/M, anophthalmia/microphthalmia; ASD, anterior segment dysgenesis