Table 2.
Genes associated with non-syndromic coloboma
| Gene | MAC phenotype | OMIM | Inheritance | Syndrome/associated phenotype -* | Reference |
|---|---|---|---|---|---|
| ABCB6 | Microphthalmia, Coloboma of iris, retina and choroid | 605452 | AD | - | Wang et al., 2012 |
| ALDH1A3 | Microphthalmia, retinal coloboma | 600463 | AR | - | Fares-Taie et al., 2013; Yahyavi et al., 2013 |
| ATOH7 | Microphthalmia | 609875 | AR | Persistent hyperplastic primary vitreous | Khan et al., 2012 |
| CRYAA | Coloboma of iris, Cataract | 123580 | AD | - | Beby et al., 2007 |
| FZD5 | Microphthalmia, Coloboma of iris, retina and choroid | 601723 | AD | - | Liu et al., 2016 |
| IPO13 | Microphthalmia, coloboma of iris, cataract | 610411 | AR | - | Huang et al., 2018 |
| LCP1 | Coloboma of iris and choroid | 153430 | AD | - | Rainger et al., 2017 |
| MAF | Coloboma of iris, Cataract | 177075 | AD | Cataract | Jamieson et al., 2002 |
| Mir204 | Coloboma of iris | 610942 | AD | Retinal dystrophy | Conte et al., 2015 |
| PAX6 | Coloboma of iris, retina, choroid and optic nerve Anophthalmia | 607108 | AD AR | Aniridia, Morning glory disc anomaly, Peter’s Anomaly, Anterior segment dysgenesis, Cataract with late-onset corneal dystrophy, Foveal hypoplasia, Keratitis, Optic nerve hypoplasia. | Azuma et al., 1996; Azuma et al., 2003; Glaser et al., 1994 |
| RARB | Microphthalmia | 180220 | AR, AD | diaphragmatic hernia, pulmonary hypoplasia, and cardiac defects | Srour et al., 2013 |
| RAX | Microphthalmia, anophthalmia, coloboma of optic nerve | 601881 | AR | - | Voronina et al., 2004 |
| RBP4 | Microphthalmia, Coloboma of iris, choroid and retina | 180250 | AD AR | Retinal dystrophy, comedogenic acne syndrome | Cukras et al., 2012; Chou et al., 2015. |
| SALL2 | Microphthalmia, Coloboma of iris, retina and choroid | 602219 | AR | - | Kelberman et al., 2014 |
| SHH | Microphthalmia with Coloboma of retina, choroid, iris and retina | 600725 | AD | Holoprosencephaly | Schimmenti et al. 2003; Nanni et al., 1999 |
| SIX6 | Coloboma of iris, choroid and optic nerve | 606326 | AR | Optic disc anomalies, macular atrophy and reduces retinal ganglion cell differentiation | Aldahmesh et al., 2013; Yariz et al., 2015 |
| STRA6 | Microphthalmia, anophthalmia, coloboma | 610745 | AR | - | Casey et al., 2011 |
| TENM3/ODZ3 | Microphthalmia, iris coloboma | 610083 | AR | - | Aldahmesh et al., 2012 |
| VSX2 | Microphthalmia, anophthalmia, iris coloboma | 142993 | AR | cataracts | Kohn et al., 1988; Bar-Yosef et al., 2004 |
*
No associated phenotype reported with this gene.
AD: Autosomal dominant, AR: Autosomal recessive.