Article
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.
PloS one - 1 Jan 2015
de Melo Mônica Barbosa, Mandal Anil K, Tavares Ivan M, Ali Mohammed Hasnat, Kabra Meha, de Vasconcellos José Paulo Cabral, Senthil Sirisha, Sallum Juliana M F, Kaur Inderjeet, Betinjane Alberto J, Moura Christiane R, Paula Jayter S, Costa Karita A, Sarfarazi Mansoor, Paolera Mauricio Della, Finzi Simone, Ferraz Victor E F, Costa Vital P, Belfort Rubens, Chakrabarti Subhabrata
Abstract excerpt
BACKGROUND: Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG...
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