Oltrogge Ernst V

Stoilov Ivaylo R, Costa Vital P, Vasconcellos Jose P C, Melo Monica B, Betinjane Alberto J, Carani Jose C E et al.

This study found CYP1B1 gene mutations in half of Brazilian primary congenital glaucoma patients, with a specific mutation (4340delG) and haplotype linked to severe disease, guiding genetic screening and prognosis.