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