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Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations.
Morales-Fernandez Laura, Martinez-de-la-Casa Jose M, Garcia-Bella Javier, Mendez Carmen, Saenz-Frances Federico, Garcia Maite et al.
J GlaucomaJan 20159 citationsCase Report
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.