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)