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Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.

PloS one - 1 Jan 2022

Tehreem Raeesa, Arooj Anam, Siddiqui Sorath Noorani, Naz Shagufta, Afshan Kiran, Firasat Sabika

Abstract excerpt

BACKGROUND: Primary congenital glaucoma (PCG) is a heterogeneous rare recessively inherited disorder prevalent in regions with high consanguinity. Disease phenotype is associated with increased intra ocular pressure and is a major cause of childhood blindness. Sequence variations in Cytochrome P450 1B1 (CYP1B1) gene are a major cause of PCG. Current study was conducted to screen CYP1B1 gene in highly...

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PMID: 36083974
DOI: 10.1371/journal.pone.0274335
PMCID: PMC9462810

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