Table 2 of Kaur, Mol Vis 2009; 15:1366-1373.
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 |