Table 3 of
Abouzeid, Mol Vis 2012; 18:1449-1456. Table 3 of
Abouzeid, Mol Vis 2012; 18:1449-1456.
Table 3. Reported Mutations in the RAX gene and ocular phenotypes.
| RAX Mutation | Ocular phenotype RE/LE | Cerebral malformations | Affected patients | Patient origin | Parent RAX mutation | Reference |
|---|---|---|---|---|---|---|
| p.Q147X/p.R192Q Compound heterozygous | Anophthalmia/Sclerocornea, persistent fetal vasculature, retinal detachment. | None (MRI) | 1 | Not reported | Healthy mother, heterozygous carrier R192Q | [10] |
| p.Ser222ArgfsX62/p.Tyr303X Compound heterozygous | Anophthalmia/ Anophthalmia | Hypoplastic optic tracts and chiasm, normal brain. (on MRI) | 1 | Algeria | Not tested | [11] |
| Heterozygous p.R66T | Chorioretinal coloboma/Normal | Not reported. | 1 | Not reported | Not tested | [15] |
| Heterozygous p.T50P | Microphthalmia/Normal | Septum pellucidum agenesis, cortical atrophy, LE optic nerve atrophy (on CT scan) | 1 | Mexico | Not tested | [14] |
| Heterozygous p.R110G | Anophthalmia/Normal | Hydrocephalus (on CT scan) | 1 | Mexico | Not tested | [14] |
| Homozygous p.IVS2+3G>A | Anophthalmia/ Anophthalmia | Agenesis of the ONs, tracts and chiasm. (on MRI) | 2 | Egypt | Father and mother, heterozygous healthy carriers | Abouzeid et al. (present study) |
| Homozygous p.IVS2+3G>A | Anophthalmia/ Anophthalmia | Agenesis of the ONs, tracts and chiasm. Significant cortical atrophy. (on MRI) | 1 | Egypt | Father and mother, heterozygous healthy carriers | Abouzeid et al. (present study) |