Elahi Elahe

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.

We provide further evidence for PCG caused by TEK haploinsufficiency, affirm autosomal dominant inheritance in two pedigrees, and propose SVEP1 as a modifier of TEK expression during SC development, affecting disease penetrance and severity.

Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients.

PCG patients with CYP1B1 mutations seem to have earlier onset disease, display more severe manifestations, and require more operations as compared with subjects without such mutations.