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