Article
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Molecular vision - 1 Jan 2013
Millá Elena, Mañé Begoña, Duch Susana, Hernan Imma, Borràs Emma, Planas Ester, Dias Miguel de Sousa, Carballo Miguel, Gamundi María José
Abstract excerpt
PURPOSE: To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT). METHODS: Index patients from 226 families participated in this study. Patients were diagnosed with familial glaucoma or OHT by complete ophthalmologic examination. Screening for MYOC mutations was...
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