Article
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
PloS one - 1 Jan 2017
García-Antón María T, Salazar Juan J, de Hoz Rosa, Rojas Blanca, Ramírez Ana I, Triviño Alberto, Aroca-Aguilar José-Daniel, García-Feijoo Julián, Escribano Julio, Ramírez José M
Abstract excerpt
Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. Surgical pieces from trabeculectomy from patients with PCG (n = 5) and sclerocorneal rims (n = 3) from cadaver donors were processed for...
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