CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma.

Sushmita Kaushik Manni Luthra-GuptasarmaDimple PrasherDeepika DhingraNirbhai SinghAman KumarSurya Prakash SharmaHarpreet KaurSagarika SnehiFaisal ThattaruthodySurinder Singh Pandav

Published in: The British journal of ophthalmology (2021)

Patients with CYP1B1 pathogenic variants had a poorer outcome than those without. We found more NO PCG babies with CYP1B1 mutations compared with IO PCG. This may be one of the reasons for NO PCG having a poorer prognosis compared with IO PCG.

Keyphrases

copy number
gestational age
dna methylation
preterm birth