Article
Genotype and phenotype correlations in congenital glaucoma.
Transactions of the American Ophthalmological Society - 1 Jan 2006
Hollander David A, Sarfarazi Mansoor, Stoilov Ivaylo, Wood Irmgard S, Fredrick Douglas R, Alvarado Jorge A
Abstract excerpt
PURPOSE: To determine whether there is a correlation among mutations in the cytochrome P450 1B1 gene (CYP1B1), the degree of angle dysgenesis observed histologically, and disease severity in congenital glaucoma. METHODS: Direct DNA sequencing was utilized to screen six unrelated children with congenital glaucoma, each set of parents, and all siblings for CYP1B1 mutations. Specimens of the anterior chamber angle...
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