Escribano Julio

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

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.

Morales-Fernandez Laura, Martinez-de-la-Casa Jose M, Garcia-Bella Javier, Mendez Carmen, Saenz-Frances Federico, Garcia Maite et al.

A Spanish family with CYP1B1 mutations for primary congenital glaucoma showed high variability in disease onset and severity despite the same genetic cause, highlighting diverse clinical outcomes from a single genotype.

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

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.

Coca-Prados Miguel, Escribano Julio

The ciliary body, expressing glaucoma-associated genes and neuroendocrine factors, acts as a multifunctional neuroendocrine gland regulating aqueous humor and intraocular pressure. This redefines its role in glaucoma pathophysiology.