Table 2 of Kaur, Mol Vis 2009; 15:1366-1373. Table 2 of Kaur, Mol Vis 2009; 15:1366-1373.
Table 2. Detected variations and disease phenotype.
| Variation | Phenotype |
|---|---|
| Heterozygous p.Pro297Ser | Unilateral microphthalmia and sclerocornea |
| Heterozygous p.Pro297Ser | Unilateral extreme microphthalmia with cyst, contralateral myopia |
| Heterozygous p.Thr368Asn | Unilateral microphthalmia and dense cataract |
| Heterozygous p.Gly380ins | Multiple patients |
| Homozygous p.Gly380ins | Multiple patients |
| Heterozygous p.Ala31_33del | Right optic disc coloboma and left iris and chorioretinal coloboma |
| Heterozygous 3`-UTR 1662+1041C>T | Right optic disc coloboma and left iris and chorioretinal coloboma |
| Heterozygous 3`-UTR 1622+396delC | Bilateral microphthalmia with Rieger anomaly and |
| Heterozygous 3`-UTR 1622+396delC | Unilateral microphthalmia with microcornea and subtotal retinal detachment |