Medina-Trillo Cristina

2 articles in GJC

Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.

Medina-Trillo Cristina, Ferre-Fernández Jesús-José, Aroca-Aguilar José-Daniel, Bonet-Fernández Juan-Manuel, Escribano Julio

Acta OphthalmolApr 20169 citationsBasic Science

Studying CYP1B1 variants in congenital glaucoma, researchers found six were null and two hypomorphic. This confirms that very low or absent CYP1B1 activity is the primary cause of this severe eye disease.

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Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

López-Garrido María-Pilar, Medina-Trillo Cristina, Morales-Fernandez Laura, Garcia-Feijoo Julián, Martínez-de-la-Casa José-María, García-Antón Maite et al.

OphthalmologyApr 201348 citationsObservational Study

This study found that null CYP1B1 genotypes, leading to complete enzyme absence, frequently cause severe early-onset glaucoma, requiring more surgeries. It suggests CYP1B1 glaucoma is not a simple monogenic disease.

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Medina-Trillo Cristina

Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.