Table 1 of Mataftsi, Mol Vis 2011; 17:1624-1640.


Table 1. Genes known to be implicated in CCO (in humans).

Locus Gene ASDA or other ocular feature associated with this gene Key references OMIM
1p32 FOXE3* (forkhead box E3) ASDA+cataract, primary aphakia [6], [7] *601094, 610256
2p22-p21 CYP1B1 congenital glaucoma, Peters anomaly [8], [9], [10] *601771, 604229
3q26.3–27 SOX2 anophthalmia, microphthalmia, coloboma, optic nerve hypoplasia [11], [12] *184429
4q25 PITX2* (paired-like homeodomain transcription factor 2; formerly RIEG1) Axenfeld-Rieger anomaly/syndrome, Peters anomaly [13] *601542
6p24 TFAP2A colobomatous microphthalmia, corneal clouding, buphthalmos [14], [15] *107580
6p25 FOXC1 (forkhead box C1; formerly FKHL7) glaucoma, ad iridogoniodysgenesis [16] *601090
8q13.3 EYA1* (eyes absent 1) CCO, ASDA, congenital cataract [17] *601653
10q25 PITX3* ad ASDA+cataract [18] +602669
10q26 FGFR2* (fibroblast growth factor receptor 2) Peters anomaly, Axenfeld-Rieger anomaly [19], [20] *176943
11p13 PAX6* (paired box gene 6) congenital cataracts, anophthalmia, aniridia, ad Peters anomaly, CNS defects (in one family), microcornea and microphthalmia [21], [22], [23], [24] *607108
12q21.3 DCN* (décorin) ad Congenital Stromal Corneal Dystrophy (CSCD) [25] 610048, 125255
12q22-q23 KERA* (keratocan) CNA2, ar cornea plana with sclerocornea [26], [27] *603288, 217300
13q12.3 B3GALTL* (beta-1,3-glucosyltransferase) ar Peters-plus (Kivlin) syndrome [28], [29] 261540, *610308
16q22–23 MAF* (transcription factor) ad cataract and PA and microphthalmia (1 family), cataract and microcornea and iris coloboma (1 family) [30], [31] *177075
18q21.3 RAX (homeobox gene) R anophthalmia and L S-CCO with persistent fetal vasculature and retinal detachment [32] *601881
20p11.2 VSX1* posterior polymorphous corneal dystrophy, keratoconus [33] 122000, *605020
20p13-p12 SLC4A11* ar congenital hereditary endothelial dystrophy (CHED2) [34] 217700